General Information of Disease (ID: DISBB28L)

Disease Name Epilepsy
Synonyms epilepsy; seizure disorder
Disease Class 8A61-8A6Z: Epilepsy/seizure
Definition
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
Disease Hierarchy
DIS6ZC3X: Brain disease
DISBB28L: Epilepsy
ICD Code
ICD-11
ICD-11: 8A60-8A68
Disease Identifiers
MONDO ID
MONDO_0005027
MESH ID
D004827
UMLS CUI
C0014544
MedGen ID
4506
SNOMED CT ID
128613002

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 42 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Alprazolam DMC7XDN Approved Small molecular drug [1]
Amobarbital DM0GQ8N Approved Small molecular drug [2]
Brivaracetam DMSEPK8 Approved Small molecular drug [3]
Cannabidiol DM0659E Approved Small molecular drug [1]
Carbamazepine DMZOLBI Approved Small molecular drug [4]
Clobazam - Lundbeck DMW1OQ0 Approved Small molecular drug [5]
Clonazepam DMTO13J Approved Small molecular drug [6]
Diazepam DM08E9O Approved Small molecular drug [7]
Ethosuximide DMDZ9LT Approved Small molecular drug [8]
Felbamate DM1V5ZS Approved Small molecular drug [9]
Fosphenytoin DMOX3LB Approved Small molecular drug [10]
Lacosamide DMVM6QR Approved Small molecular drug [11]
Lamotrigine DM8SXYG Approved Small molecular drug [12]
Levetiracetam DMTGDN8 Approved Small molecular drug [13]
Mephenytoin DM5UGDK Approved Small molecular drug [14]
Metharbital DM5A38V Approved Small molecular drug [15]
Methsuximide DM6L5VO Approved Small molecular drug [16]
Methylphenobarbital DMDSWAG Approved Small molecular drug [17]
Midazolam DMXOELT Approved Small molecular drug [18]
Nitrazepam DMEGIQ6 Approved Small molecular drug [19]
Oxcarbazepine DM5PU6O Approved Small molecular drug [20]
Paramethadione DMR5ZUP Approved Small molecular drug [21]
Pentobarbital DMFNH7L Approved Small molecular drug [22]
Phenacemide DMOHS9P Approved Small molecular drug [23]
Phenobarbital DMXZOCG Approved Small molecular drug [24]
Phensuximide DMFGLXB Approved Small molecular drug [25]
Phenytoin DMNOKBV Approved Small molecular drug [10]
Piracetam DM5BXH9 Approved Small molecular drug [26]
Pregabalin DMDVP3B Approved Small molecular drug [27]
Primidone DM0WX6I Approved Small molecular drug [28]
Retigabine DMGNYIH Approved Small molecular drug [11]
Rufinamide DMWE60C Approved Small molecular drug [29]
Secobarbital DM14RF5 Approved Small molecular drug [30]
Sertraline DM0FB1J Approved Small molecular drug [31]
Stiripentol DMMSDOY Approved Small molecular drug [32]
Thiopental DMGP8AX Approved Small molecular drug [33]
Tiagabine DMKSQG0 Approved Small molecular drug [34]
Topiramate DM82Z30 Approved Small molecular drug [35]
Trimethadione DM0Q8MZ Approved Small molecular drug [36]
Valproate DMCFE9I Approved Small molecular drug [37]
Vigabatrin DMYT0OG Approved Small molecular drug [38]
Zonisamide DM0DTF7 Approved Small molecular drug [39]
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⏷ Show the Full List of 42 Drug(s)
This Disease is Treated as An Indication in 30 Clinical Trial Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
APL-130277 DMX0C5Z Phase 3 NA [1]
Carisbamate DM4Y1SP Phase 3 Small molecular drug [40]
NRL-1 DMQIZSG Phase 3 NA [1]
VLB-01 DMQGV5P Phase 3 NA [41]
YKP-3089 DMARQH8 Phase 3 NA [42]
Padsevonil DMRZ1F2 Phase 2/3 Small molecular drug [43]
Belnacasan DM2Q50G Phase 2 Small molecular drug [44]
CX-8998 DM3GEHC Phase 2 NA [1]
GWP42006 DMKA25K Phase 2 Small molecular drug [45]
ICA-105665 DMP925B Phase 2 NA [46]
JNJ-26489112 DMQ378R Phase 2 Small molecular drug [47]
JNJ-40411813 DMP84HB Phase 2 Small molecule [48]
NS 1209 DM9EFH0 Phase 2 Small molecular drug [49]
RGH-896 DMCHZAN Phase 2 Small molecular drug [1]
Selurampanel DMJH6EL Phase 2 Small molecular drug [50]
Senktide DMOH8LD Phase 2 Small molecular drug [1]
T-2007 DMF9Z2T Phase 2 NA [51]
Tonabersat DMT4OPL Phase 2 Small molecular drug [52]
UCB-0942 DMXZVQH Phase 2 NA [53]
ADS-4101 DMAI39I Phase 1 NA [1]
ADX71149 DMBUOX4 Phase 1 NA [1]
BIS-001 DMWBOT1 Phase 1 NA [1]
DSP-0565 DMY95MZ Phase 1 NA [54]
E2730 DM4BD5U Phase 1 NA [1]
MDL-27531 DMC60S8 Phase 1 Small molecular drug [55]
Org-25435 DMBG534 Phase 1 Small molecular drug [56]
PF-04895162 DM73YDD Phase 1 NA [57]
PRAX-330 DMHIS3M Phase 1 NA [1]
XEN1101 DMJVL57 Phase 1 NA [11]
XEN901 DMRP9YF Phase 1 NA [11]
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⏷ Show the Full List of 30 Drug(s)
This Disease is Treated as An Indication in 30 Discontinued Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
CHF-3098 DMQH86Z Withdrawn from market NA [10]
Seletracetam DM3IJMN Discontinued in Phase 3 Small molecular drug [58]
TJ-960 DM59YQQ Discontinued in Phase 3 NA [59]
Becampanel DMPIJE7 Discontinued in Phase 2 Small molecular drug [58]
CS-722 DMGYXA4 Discontinued in Phase 2 Small molecular drug [60]
NPS 1776 DM0CF3B Discontinued in Phase 2 Small molecular drug [61]
RESEQUINIL DM3EAYN Discontinued in Phase 2 Small molecular drug [62]
S-312-d DMQ2RDZ Discontinued in Phase 2 Small molecular drug [63]
Valrocemide DMSN81G Discontinued in Phase 2 Small molecular drug [64]
SL-90.0571 DMFUTHB Discontinued in Phase 1 NA [65]
SPD-418 DMGBTTM Discontinued in Phase 1 NA [66]
A-134974 DMRWDX5 Terminated Small molecular drug [67]
A-76895 DMTF6D9 Terminated NA [68]
C-202 DMPL0C9 Terminated NA [69]
CGP-35348 DMZM70X Terminated Small molecular drug [70]
CNS-1067 DM2Z1EE Terminated NA [71]
Co-111732 DM1QIQ9 Terminated NA [72]
Co-152791 DMU5TZD Terminated NA [73]
Co-2-1068 DM11D8S Terminated NA [74]
GSK406725 DMADVF9 Terminated NA [75]
NNC-14-0185 DMTM0FH Terminated NA [76]
NNC-14-0189 DMW11WO Terminated NA [77]
NS-696 DMI46T3 Terminated NA [78]
Ralitoline DM7HAE9 Terminated Small molecular drug [79]
RWJ-37868 DM17WNG Terminated Small molecular drug [80]
SPD-452 DMZCYFM Terminated NA [81]
SPD-453 DMEL79J Terminated NA [82]
SRSC-371 DMS65UG Terminated NA [83]
U-54494A DM4WUEP Terminated Small molecular drug [84]
UCL-1390 DMD3CA5 Terminated Small molecular drug [85]
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⏷ Show the Full List of 30 Drug(s)
This Disease is Treated as An Indication in 10 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
AMP-X-0001 DM7AARP Investigative NA [86]
CLP-635 DM1B0PY Investigative NA [87]
CX-1010 DMUKERP Investigative NA [86]
ENDG-8010 DMQ156H Investigative NA [86]
IMU-200 DMWKRFH Investigative NA [86]
NLX-E201 DMH1WUS Investigative NA [86]
NsG-0501 DMVRFOR Investigative NA [86]
NTP-2014 DMARQZ2 Investigative NA [86]
QUAN-0806 DMTIFMI Investigative NA [86]
SNP-001 DMHWS94 Investigative NA [86]
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⏷ Show the Full List of 10 Drug(s)
This Disease is Treated as An Indication in 1 Investigative Agents
Drug Name Drug ID Highest Status Drug Type REF
Valproic Acid DMS49KH Investigative Small molecular drug [88]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 268 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CHRNA7 TTLA931 Refuted Unknown [89]
CLCN2 TT30NW6 Refuted Autosomal dominant [89]
CRH TTA7YIZ Refuted Autosomal dominant [89]
ALB TTFNGC9 Limited Genetic Variation [90]
FLNA TTSTRZY Limited Genetic Variation [91]
GABRA1 TT1MPAY Limited Genetic Variation [92]
GABRB2 TTZA1NY Limited Biomarker [93]
GABRD TTGXH6N Limited Autosomal dominant [89]
GABRD TTGXH6N Limited Biomarker [94]
GLUL TTURQ2G Limited Biomarker [95]
GRM1 TTVBPDM Limited Biomarker [96]
KCNA1 TTS3DIK Limited Biomarker [97]
KCNC1 TTVUWHQ Limited Genetic Variation [98]
KCNH1 TT9XKUC Limited Genetic Variation [99]
KCNH5 TTX8LQ0 Limited Biomarker [100]
PDGFB TTQA6SX Limited Biomarker [101]
PDXP TT9UYG4 Limited Biomarker [102]
SCN9A TT4G2JS Limited Biomarker [103]
ABCC1 TTOI92F Disputed Altered Expression [104]
ACHE TT1RS9F Disputed Biomarker [105]
AZGP1 TTUPYLV Disputed Biomarker [106]
CASR TTBUYHA Disputed Autosomal dominant [89]
CHRNB2 TT5KPZR Disputed Genetic Variation [107]
CYP3A4 TTWP7HQ Disputed Biomarker [108]
GAL TTXZAJ5 Disputed Genetic Variation [109]
GRM4 TTICZ1O Disputed Genetic Variation [110]
GRM5 TTHS256 Disputed Biomarker [111]
HCN2 TT9EUT4 Disputed Genetic Variation [112]
KCNA2 TTVFB0O Disputed Genetic Variation [113]
KCNB1 TT5OEKU Disputed Biomarker [114]
KCNQ1 TT846HF Disputed Biomarker [115]
KCNQ4 TT8HGRW Disputed Biomarker [116]
SCN4A TT84DRB Disputed Genetic Variation [117]
SLC5A6 TT61XTV Disputed Biomarker [118]
ALDH5A1 TTJUWVB moderate Biomarker [119]
BCL2L2 TTQ79W8 moderate Biomarker [120]
BDKRB1 TTG5QIA moderate Biomarker [121]
BDKRB2 TTGY8IW moderate Biomarker [121]
BECN1 TT5M7LN moderate Biomarker [122]
BMP4 TTD3BSX moderate Biomarker [123]
CAPN1 TT1WBIJ moderate Therapeutic [124]
CNR1 TT6OEDT moderate Biomarker [125]
DMD TTWLFXU moderate Biomarker [126]
FGFR3 TTST7KB moderate Genetic Variation [127]
GRIA1 TTVPQTF moderate Altered Expression [128]
KCNH2 TTQ6VDM moderate Biomarker [115]
MIF TT6804T moderate Biomarker [129]
NF2 TTZIK7P moderate Biomarker [130]
PPIA TTL2ADK moderate Biomarker [129]
PRNP TTY5F9C moderate Biomarker [131]
SLCO1A2 TTUGD21 moderate Biomarker [132]
TH TTUHP71 moderate Biomarker [133]
ABAT TTT2LD9 Strong Biomarker [134]
ABCC9 TTEF5MJ Strong Biomarker [135]
ABCG1 TTMWDGU Strong Biomarker [135]
ABHD6 TTSINOV Strong Biomarker [136]
ACTG1 TTGAZF9 Strong Biomarker [137]
ADORA2A TTM2AOE Strong Altered Expression [138]
ADRA1D TT34BHT Strong Genetic Variation [139]
ADRA2A TTWG9A4 Strong Therapeutic [140]
AKR1C3 TT5ZWB6 Strong Altered Expression [141]
AKT1 TTWTSCV Strong Biomarker [142]
ASIC2 TTVMWLP Strong Altered Expression [143]
ATP1A2 TT5B6HJ Strong Genetic Variation [144]
ATP6V1A TTL2PXZ Strong Genetic Variation [145]
BCKDK TT7WD2Q Strong Genetic Variation [146]
BCL11A TTR61MW Strong Genetic Variation [147]
C9orf72 TTA4SHR Strong Biomarker [148]
CACNA1A TTX4QDJ Strong Genetic Variation [149]
CACNA1B TT4FDG6 Strong Genetic Variation [150]
CACNA1E TTYRP0M Strong Genetic Variation [151]
CACNA1H TTZPWGN Strong Genetic Variation [152]
CACNA1S TT94HRF Strong Genetic Variation [153]
CACNA2D1 TTFK1JQ Strong Genetic Variation [154]
CACNA2D2 TTU8P3M Strong Biomarker [155]
CAMKK2 TTV298Y Strong Altered Expression [156]
CDK5 TTL4Q97 Strong Biomarker [157]
CFP TTLA0VS Strong Biomarker [158]
CHRM1 TTZ9SOR Strong Biomarker [159]
CHRM2 TTYEG6Q Strong Genetic Variation [160]
CHRM3 TTQ13Z5 Strong Genetic Variation [161]
CHRNA2 TTF4E0J Strong Biomarker [162]
CHRNA4 TT4H1MQ Strong Genetic Variation [163]
CHRNA7 TTLA931 Strong Genetic Variation [164]
CLCN2 TT30NW6 Strong Genetic Variation [165]
CLCN7 TTST1AJ Strong Genetic Variation [166]
CPA1 TT3LJ6G Strong Biomarker [167]
CRTC1 TT4GO0F Strong Biomarker [168]
CSNK1E TTA8PLI Strong Biomarker [169]
CTSD TTPT2QI Strong Biomarker [170]
CYP2B6 TTMH124 Strong Genetic Variation [171]
CYP2C19 TTZ58XG Strong Biomarker [172]
CYP2C9 TTR40YJ Strong Genetic Variation [173]
CYP2D6 TTVG215 Strong Biomarker [174]
DLG4 TT9PB26 Strong Biomarker [175]
DNM1 TTE3JW9 Strong Biomarker [93]
DPYSL2 TTZCW3T Strong Altered Expression [176]
DRD4 TTE0A2F Strong Genetic Variation [177]
DYRK1A TTSBVFO Strong Biomarker [93]
EEF2K TT1QFLA Strong Biomarker [178]
EHMT2 TTS6RZT Strong Biomarker [179]
EPHB1 TT8MDAC Strong Genetic Variation [180]
ERN1 TTKIAT3 Strong Biomarker [181]
FFAR1 TTB8FUC Strong Biomarker [182]
FOLR1 TTVC37M Strong Biomarker [183]
FOSL2 TT689IR Strong Genetic Variation [184]
FYN TT2B9KF Strong Biomarker [185]
GABRA2 TTBMV1G Strong Genetic Variation [186]
GABRA3 TT37EDJ Strong Genetic Variation [187]
GABRA5 TTNZPQ1 Strong Genetic Variation [186]
GABRR2 TTQMXLS Strong Genetic Variation [188]
GAD1 TTKGEP3 Strong Biomarker [189]
GAD2 TT7UY6K Strong Altered Expression [190]
GALR1 TTX3HNZ Strong Biomarker [191]
GAP43 TTSGLN5 Strong Altered Expression [192]
GAPDH TTUGSWA Strong Biomarker [193]
GLO1 TTV9A7R Strong Biomarker [194]
GLRA1 TTF45NW Strong Biomarker [195]
GNAO1 TTAXD8Z Strong Genetic Variation [196]
GRIA2 TTWM461 Strong Genetic Variation [197]
GRIA3 TT82EZV Strong Biomarker [198]
GRIA4 TTPJR0G Strong Altered Expression [199]
GRIK2 TT0K5RG Strong Genetic Variation [197]
GRIK4 TTQV6BO Strong Biomarker [200]
GRIN2C TT1M8OW Strong Biomarker [201]
GRIN2D TT5POTG Strong Genetic Variation [202]
GRK5 TTTCXO0 Strong Biomarker [203]
GRM2 TTXJ47W Strong Biomarker [204]
GRM3 TT8A9EF Strong Altered Expression [205]
GRM7 TT0I76D Strong Biomarker [206]
GRM8 TT0IFKL Strong Biomarker [207]
HAX1 TT21BYA Strong Genetic Variation [208]
HCAR1 TTVK4ZO Strong Biomarker [209]
HCN1 TTNB6UQ Strong Biomarker [210]
HCN4 TTQP04A Strong Genetic Variation [211]
HDAC9 TT8M4E1 Strong Biomarker [212]
HMGB1 TTWQYB7 Strong Biomarker [213]
HTR1A TTSQIFT Strong Biomarker [214]
IDS TTNY2AP Strong Genetic Variation [215]
ILK TT7ALZG Strong Therapeutic [216]
KCND3 TTPLQO0 Strong Genetic Variation [217]
KCNJ10 TTG140O Strong Genetic Variation [218]
KCNJ6 TTTIBVP Strong Biomarker [219]
KCNMA1 TTE87WJ Strong Biomarker [220]
KCNQ3 TTIVDM3 Strong Genetic Variation [221]
KCNQ5 TTWVL5Q Strong Genetic Variation [222]
KCNT2 TTLU5FO Strong Biomarker [223]
KDM5C TT94UCF Strong Biomarker [224]
KIF5A TTCJPAH Strong Biomarker [225]
KLK8 TTH5MRS Strong Biomarker [226]
LAIR1 TTSI7A8 Strong Biomarker [227]
LIFR TTID542 Strong Biomarker [228]
LRP2 TTPH1AJ Strong Biomarker [229]
MAPK10 TT056SO Strong Biomarker [230]
MAPT TTS87KH Strong Genetic Variation [231]
MGAT1 TTYJRN5 Strong Biomarker [232]
MOG TTQAFX5 Strong Genetic Variation [233]
MTR TTUTO39 Strong Genetic Variation [234]
MUSK TT6SA0X Strong Biomarker [235]
MYD88 TTB6Q2O Strong Biomarker [236]
NDUFA13 TTRU1NG Strong Altered Expression [237]
NR1I2 TT7LCTF Strong Biomarker [238]
NRP2 TTRXUVC Strong Biomarker [239]
NSD1 TTTSJ3H Strong Genetic Variation [240]
NTF3 TTZHKV9 Strong Biomarker [241]
OPHN1 TTU7HRD Strong Biomarker [242]
OPRD1 TT27RFC Strong Biomarker [243]
OPRK1 TTQW87Y Strong Biomarker [244]
OPRL1 TTNT7K8 Strong Altered Expression [245]
OPRM1 TTKWM86 Strong Biomarker [243]
P2RX4 TT1NLOA Strong Biomarker [246]
P2RX7 TT473XN Strong Biomarker [247]
P2RY12 TTZ1DT0 Strong Biomarker [248]
PAM TTF4ZPC Strong Genetic Variation [249]
PHGDH TT8DRCK Strong Biomarker [250]
PLCB1 TTLPGU7 Strong Biomarker [251]
PLCG1 TT6T4JI Strong Biomarker [251]
PLN TTMCVJF Strong Genetic Variation [252]
PNPLA6 TTWAQU2 Strong Biomarker [228]
POMC TT21AKM Strong Biomarker [253]
PPP3CA TTA4LDE Strong Biomarker [254]
PRKG2 TTDWFCQ Strong Altered Expression [128]
PSEN1 TTZ3S8C Strong Genetic Variation [255]
RACK1 TTJ10AL Strong Biomarker [256]
RALBP1 TTVSRUA Strong Biomarker [257]
RBPJ TT72D4Z Strong Biomarker [258]
RGS4 TTGTKX9 Strong Therapeutic [259]
RORA TT1TYN7 Strong Genetic Variation [260]
RORB TTGB2LZ Strong Genetic Variation [261]
S100B TTQ0V86 Strong Altered Expression [262]
SCN5A TTZOVE0 Strong Biomarker [263]
SIRT1 TTUF2HO Strong Biomarker [264]
SLC12A1 TTS087L Strong Biomarker [265]
SLC12A3 TTP362L Strong Biomarker [266]
SLC12A5 TTH6UZY Strong Altered Expression [267]
SLC12A6 TT8DFHE Strong Genetic Variation [268]
SLC13A5 TTFIMH7 Strong Biomarker [269]
SLC18A2 TTNZRI3 Strong Biomarker [270]
SLC18A3 TTV8KWS Strong Altered Expression [271]
SLC1A1 TTG2A6F Strong Altered Expression [272]
SLC27A4 TT20AYF Strong Biomarker [273]
SLC33A1 TTL69WB Strong Biomarker [274]
SLC5A2 TTF8JAT Strong Altered Expression [275]
SLC6A1 TTPRKM0 Strong Altered Expression [190]
SLC6A11 TT8RXO5 Strong Biomarker [276]
SLC6A8 TTYUHB5 Strong Genetic Variation [277]
SLC6A9 TTHJTF7 Strong Biomarker [232]
SLC7A11 TTBZMIO Strong Biomarker [278]
SLC8A1 TTCF82X Strong Biomarker [279]
SLC9A1 TTGSEFH Strong Biomarker [280]
SLCO2B1 TTDL3UZ Strong Genetic Variation [281]
SNAP25 TTYQWA0 Strong Biomarker [93]
SSTR1 TTIND6G Strong Biomarker [282]
SV2A TTT3P91 Strong Genetic Variation [283]
TBL1XR1 TTYXT16 Strong Genetic Variation [284]
TFPI TT068JH Strong Biomarker [285]
TNFRSF13C TT7NJSE Strong Biomarker [286]
TNFSF14 TTKVENM Strong Biomarker [287]
TNK2 TTIET93 Strong Genetic Variation [288]
TPP1 TTOVYPT Strong Biomarker [289]
TREM2 TTQRMSJ Strong Biomarker [290]
TRH TT2Z39D Strong Biomarker [291]
TRPC5 TT32NQ1 Strong Biomarker [292]
TRPM3 TTO3TD8 Strong Genetic Variation [293]
TRPM6 TTV76RD Strong Genetic Variation [294]
TRPM8 TTXDKTO Strong Biomarker [295]
TSHR TT6NYJA Strong Genetic Variation [296]
TXNRD1 TTR7UJ3 Strong Biomarker [297]
UBC TTBP3XA Strong Biomarker [298]
UBE3A TTUZX6V Strong Genetic Variation [299]
VDAC1 TTAMKGB Strong Biomarker [300]
VDAC2 TTM1I7L Strong Biomarker [300]
VIP TTGTWLF Strong Biomarker [301]
WNK3 TTI7FDX Strong Altered Expression [302]
ZWINT TTWY768 Strong Biomarker [303]
ADAM10 TTVXEGU Definitive Biomarker [304]
ADK TTL732K Definitive Biomarker [305]
ADORA1 TTK25J1 Definitive Biomarker [306]
ALPL TTMR5UV Definitive Altered Expression [307]
BACE1 TTJUNZF Definitive Biomarker [308]
CACNA1D TT7RGTM Definitive Genetic Variation [309]
CACNA1G TT729IR Definitive Biomarker [310]
CMA1 TT8VUE0 Definitive Genetic Variation [311]
FOS TTOM5AU Definitive Altered Expression [312]
GABRG2 TT06RH5 Definitive Autosomal dominant [89]
GFAP TTI6FFX Definitive Altered Expression [205]
GJD2 TTOZAFI Definitive Biomarker [313]
GNAQ TTL1SRG Definitive Biomarker [228]
GPX1 TTYAHBP Definitive Genetic Variation [314]
HSP90AB1 TTH5YN2 Definitive Biomarker [315]
KCNK3 TTGR91N Definitive Genetic Variation [316]
KCNQ2 TTPXI3S Definitive Biomarker [317]
KNG1 TTDJ4MY Definitive Altered Expression [318]
NPY TT64REZ Definitive Biomarker [319]
NPY2R TTJ6WK9 Definitive Biomarker [320]
PDPK1 TTYMGWX Definitive Biomarker [321]
PTGES TTYLQ8V Definitive Altered Expression [322]
RGMA TTURJV4 Definitive Biomarker [323]
SIK1 TT1H6LC Definitive Genetic Variation [324]
SLC16A1 TTN1J82 Definitive Genetic Variation [311]
SLC1A2 TT2F078 Definitive Genetic Variation [325]
SLC22A1 TTM5Q4V Definitive Genetic Variation [326]
SLC6A12 TTQBMPI Definitive Biomarker [327]
TAP1 TT7JZI8 Definitive Biomarker [328]
TRPM2 TTEBMN7 Definitive Biomarker [329]
TUBB2A TTJ2PTI Definitive Genetic Variation [330]
UCHL1 TTX9IFP Definitive Biomarker [331]
WAS TTE8T73 Definitive Biomarker [332]
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⏷ Show the Full List of 268 DTT(s)
This Disease Is Related to 27 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNB4 DTV8E46 Refuted Autosomal dominant [89]
SCN9A DTQC85B Limited Autosomal dominant [333]
CACNB4 DTV8E46 Disputed Biomarker [334]
SLC4A3 DT4X2AH Disputed Genetic Variation [335]
ABCB6 DTF9Y2V moderate Biomarker [336]
ABCA2 DTJ4NEG Strong Biomarker [135]
ABCD1 DTKM9DZ Strong Genetic Variation [337]
CACNG2 DTRL7OG Strong Biomarker [338]
KCNH7 DT3WXPI Strong Biomarker [339]
KCNK2 DTENHUP Strong Biomarker [340]
SLC16A7 DTLT3UG Strong Biomarker [341]
SLC17A7 DTNK0FR Strong Biomarker [342]
SLC20A2 DTFD4VB Strong Genetic Variation [343]
SLC25A21 DT2UQYR Strong Biomarker [344]
SLC25A22 DTJCWP8 Strong Biomarker [345]
SLC28A1 DT0EQPW Strong Biomarker [346]
SLC32A1 DTXQYLR Strong Biomarker [342]
SLC35A2 DT0567K Strong Biomarker [347]
SLC35A3 DTB930Q Strong Biomarker [348]
SLC45A1 DTMSNOU Strong Biomarker [349]
SLC6A13 DTX8KP0 Strong Biomarker [276]
SLC7A3 DTXQR1W Strong Genetic Variation [350]
SLC8A3 DTYFRQT Strong Biomarker [351]
SLC9A9 DT8LP62 Strong Genetic Variation [280]
ATP7A DT0LT17 Definitive Genetic Variation [352]
SLC17A6 DT5LHCR Definitive Altered Expression [353]
SLC4A10 DT7RYVF Definitive Biomarker [354]
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⏷ Show the Full List of 27 DTP(s)
This Disease Is Related to 19 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
UGT1A4 DELOY3P Limited Biomarker [355]
UGT1A6 DESD26P Limited Genetic Variation [356]
UGT2B7 DEB3CV1 Limited Genetic Variation [326]
CHDH DEAHED0 Strong Genetic Variation [357]
CYP2C18 DEZMWRE Strong Genetic Variation [358]
DHRS9 DEGTU5I Strong Altered Expression [359]
EPHX1 DELB4KP Strong Genetic Variation [360]
FARS2 DE0WGR8 Strong Genetic Variation [361]
NNMT DECVGJ3 Strong Genetic Variation [362]
PNPO DE3Z1RA Strong Genetic Variation [363]
PRODH DEVJIHS Strong Genetic Variation [364]
SMOX DEOH5V3 Strong Altered Expression [365]
TGM6 DEUWCVD Strong Biomarker [366]
UGT1A3 DEF2WXN Strong Genetic Variation [367]
UGT1A9 DE85D2P Strong Genetic Variation [368]
UGT2B15 DENZ6B1 Strong Genetic Variation [368]
VARS1 DEUPF5K Strong Genetic Variation [369]
MARS1 DE0K52I Definitive Biomarker [370]
QARS1 DEVSTRI Definitive Biomarker [371]
------------------------------------------------------------------------------------
⏷ Show the Full List of 19 DME(s)
This Disease Is Related to 445 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CACNB4 OTYAI1UO Refuted Autosomal dominant [89]
CHRNA7 OTBUSUTE Refuted Unknown [89]
CLCN2 OTBUHK0B Refuted Autosomal dominant [89]
CRH OT2MOC4T Refuted Autosomal dominant [89]
EFHC1 OTS9IBNE Refuted Autosomal dominant [89]
MAGI2 OTXDDKZS Refuted Autosomal dominant [89]
ACMSD OTPSXPSF Limited Autosomal dominant [372]
AGBL2 OTCX9987 Limited Autosomal recessive [372]
APBA2 OTXD8ID1 Limited Autosomal dominant [372]
CAPN5 OTQ8QM7K Limited Genetic Variation [373]
GABRD OTO38I2R Limited Autosomal dominant [89]
KCND2 OTIFUVV7 Limited Biomarker [374]
KLHL1 OTAX6SAD Limited Biomarker [375]
LGI2 OTFJ2ZSG Limited Genetic Variation [376]
NIPA2 OT4NEBNO Limited Genetic Variation [377]
PAFAH1B1 OT9T2TCJ Limited Genetic Variation [378]
RBFOX1 OTFPKEL7 Limited Autosomal dominant [372]
RBFOX3 OTL0F3D6 Limited Autosomal dominant [372]
SCAMP5 OT9MXA2J Limited Autosomal recessive [372]
SCARB2 OTN929M8 Limited Biomarker [379]
SCN9A OTGSKLL8 Limited Autosomal dominant [333]
SEC24D OTXR3KC9 Limited Autosomal recessive [372]
SLC7A6OS OT09YHAQ Limited Autosomal recessive [372]
ST3GAL3 OTOORKUE Limited Genetic Variation [380]
STX1B OTSW59X0 Limited Genetic Variation [381]
SYCE1L OTXU44F3 Limited Biomarker [375]
TOMM40 OTZDQ29F Limited Genetic Variation [382]
TOP3B OTNFEUOO Limited Biomarker [383]
TRIO OT71X1AK Limited Genetic Variation [384]
ALDH7A1 OTV57BZD Disputed Genetic Variation [385]
CASR OT2PEJDO Disputed Autosomal dominant [89]
CPA6 OT43RD23 Disputed Autosomal recessive [89]
JRK OTO8E77P Disputed Biomarker [386]
MBD5 OTFHT4MO Disputed Genetic Variation [387]
MVP OTJGHJRB Disputed Genetic Variation [388]
NUFIP2 OTZBZ224 Disputed Biomarker [389]
OTX1 OTRGSGH9 Disputed Biomarker [342]
PMPCA OT5X1G9Q Disputed Genetic Variation [390]
PRICKLE1 OT9HHEM9 Disputed Autosomal dominant [89]
SZT2 OTB4FVP4 Disputed Genetic Variation [391]
TK2 OTS1V4XB Disputed Genetic Variation [392]
AFF2 OTMF1PZW moderate Biomarker [393]
CAPRIN1 OTEJAMS3 moderate Biomarker [393]
CNNM2 OTZHO8WU moderate Genetic Variation [394]
FOXP2 OTVX6A59 moderate Genetic Variation [395]
GPHN OTAKK1SV moderate Genetic Variation [396]
HES1 OT8P19W2 moderate Therapeutic [397]
KIF5C OT35570Y moderate Genetic Variation [398]
LETM1 OT8N4MRU moderate Genetic Variation [399]
NLGN2 OTHDYL3H moderate Genetic Variation [400]
TAC1 OTM842YW moderate Biomarker [401]
TANC2 OTDXY7PX moderate Biomarker [402]
A1BG OTFVUGNQ Strong Genetic Variation [403]
ABCG4 OT2XJIOG Strong Biomarker [135]
ABR OTZQK8JF Strong Biomarker [404]
ACADS OTGFANYQ Strong Genetic Variation [405]
ACP1 OTJ9CKLU Strong Genetic Variation [406]
ADARB1 OTGKSZEV Strong Genetic Variation [407]
ADGRV1 OTLVXHHP Strong Genetic Variation [408]
AFM OTPOR8IO Strong Biomarker [409]
AGMO OTGMAHAT Strong Biomarker [410]
AIFM1 OTKPWB7Q Strong Biomarker [329]
ALDH6A1 OT8LCZCT Strong Biomarker [256]
ALG13 OTOH9PMY Strong Biomarker [411]
ALG6 OTZRVUH4 Strong Genetic Variation [412]
AMT OTQYEWZQ Strong Biomarker [413]
ANK2 OTWB4R1Y Strong Biomarker [414]
ANKH OTCN25R5 Strong Biomarker [415]
ANKRD11 OTV0V70M Strong Biomarker [93]
AP2M1 OTQCOSFN Strong Genetic Variation [416]
AP3D1 OTJLI0IM Strong Genetic Variation [417]
APEX2 OTJ22LIT Strong Biomarker [418]
APLP1 OTD176ZS Strong Altered Expression [419]
AQP4 OTA9MYD5 Strong Biomarker [341]
AQP6 OTXS6UYY Strong Genetic Variation [420]
ARFGEF1 OTPAU0L4 Strong Biomarker [421]
ARHGEF15 OTGHDJFP Strong Biomarker [100]
ARHGEF9 OTB1FLIW Strong Genetic Variation [396]
ARID1B OTILK3Q7 Strong Biomarker [93]
ARPC2 OTSOKOMY Strong Altered Expression [422]
ARSD OTAHW9M8 Strong Biomarker [423]
ASAH1 OT1DNGXL Strong Genetic Variation [424]
ASCL1 OTI4X44G Strong Biomarker [342]
ASTN1 OT23FQIB Strong Biomarker [425]
ASXL3 OTNDJWEZ Strong Biomarker [93]
ATL1 OTR2788Y Strong Biomarker [189]
ATP1A3 OTM8EG6H Strong Genetic Variation [426]
ATP6AP2 OT0IABVV Strong Genetic Variation [427]
ATP6V0A2 OTJBDX0Y Strong Genetic Variation [428]
ATP6V1B2 OTNX2V4Z Strong Genetic Variation [429]
AUTS2 OTAEXHSC Strong Biomarker [430]
BAD OT63ERYM Strong Genetic Variation [431]
BAG6 OT4Z0S2U Strong Genetic Variation [432]
BBS4 OT0D3JC0 Strong Genetic Variation [433]
BCL9 OTRBIPR4 Strong Biomarker [434]
BCO2 OTP1L0BZ Strong Genetic Variation [435]
BCS1L OT5PY5CY Strong Biomarker [436]
BHLHE22 OTZUQY5L Strong Altered Expression [437]
BRAT1 OT5ABVYX Strong Biomarker [438]
CACHD1 OTW13G4O Strong Biomarker [439]
CADPS2 OTV1FW0M Strong Genetic Variation [440]
CALB1 OTM7IXDG Strong Biomarker [441]
CALHM1 OTUZPEYQ Strong Biomarker [442]
CAMK2D OTJ5XLVU Strong Biomarker [443]
CAMK4 OT47RDGV Strong Biomarker [444]
CAMSAP2 OT9KXWE7 Strong Genetic Variation [445]
CAP1 OTYM8A2N Strong Biomarker [446]
CCDC6 OTXRQDYG Strong Genetic Variation [447]
CCM2 OT2I5DOW Strong Genetic Variation [448]
CCN3 OTOW5YL4 Strong Genetic Variation [449]
CDYL OTCUK5KZ Strong Biomarker [450]
CERT1 OTNUCNHX Strong Biomarker [93]
CHL1 OT6E6E8P Strong Genetic Variation [451]
CHMP1B OTP715L8 Strong Genetic Variation [452]
CIC OTFXCHNZ Strong Altered Expression [453]
CLC OTYMYR85 Strong Genetic Variation [454]
CLCN4 OT4A2UWF Strong Genetic Variation [453]
CLN8 OT0D4CB5 Strong Biomarker [455]
CLTC OTBFASMA Strong Genetic Variation [456]
CNKSR1 OTSNAEQ9 Strong Biomarker [291]
CNN3 OTJTAXAP Strong Biomarker [457]
CNTN6 OTXVGVOR Strong Genetic Variation [458]
CNTNAP4 OTKXR9AW Strong Biomarker [459]
COL4A5 OTHG60RE Strong Genetic Variation [460]
COQ8A OT1ETSA2 Strong Genetic Variation [461]
COTL1 OT6YCNLF Strong Genetic Variation [180]
COX3 OTNNGBYJ Strong Genetic Variation [462]
CPLX1 OT7UIGTP Strong Genetic Variation [463]
CPT1A OTI862QH Strong Genetic Variation [464]
CRAMP1 OT0X95YA Strong Genetic Variation [180]
CREBZF OTO3TOEU Strong Biomarker [465]
CRIP1 OT0EICG3 Strong Biomarker [466]
CRIP2 OTVVJSYX Strong Biomarker [466]
CSNK2B OT2WW7R1 Strong Genetic Variation [467]
CSTB OT3U0JF8 Strong Biomarker [468]
CTNND2 OTYKE30Y Strong Genetic Variation [469]
CUL4B OT2QX4DO Strong Biomarker [470]
CUX2 OTDJTQAJ Strong Genetic Variation [471]
CYTB OTAHB98A Strong Genetic Variation [472]
DAP OT5YLL7E Strong Biomarker [473]
DCAF13 OTQQ0QXT Strong Genetic Variation [449]
DCX OTISR7K3 Strong Biomarker [474]
DDX3X OTDO4TRX Strong Biomarker [93]
DEAF1 OTCLX3ZW Strong Genetic Variation [475]
DEGS1 OT4WXPKW Strong Genetic Variation [476]
DESI1 OTFNIW98 Strong Genetic Variation [477]
DGKE OTWS86AS Strong Biomarker [478]
DLX1 OT7BH057 Strong Biomarker [342]
DLX2 OTKC2DQ0 Strong Biomarker [342]
DNAH8 OTGES2OU Strong Genetic Variation [145]
DNAJC6 OT1P6ZIE Strong Biomarker [479]
DPM2 OTDERBWM Strong Genetic Variation [480]
DPYSL3 OTINJV20 Strong Biomarker [342]
DSCAM OTL7PRMK Strong Altered Expression [481]
DUOX1 OTQ2AEW0 Strong Altered Expression [482]
DUOX2 OTU14HCN Strong Altered Expression [482]
DXO OTFDTNW4 Strong Biomarker [483]
EARS2 OTNCJKY7 Strong Biomarker [484]
ECM1 OT1K65VW Strong Genetic Variation [485]
EEF1A2 OT9Z23K5 Strong Genetic Variation [486]
EEF2 OTZ7SZ39 Strong Biomarker [178]
EFNB3 OT12WTXQ Strong Biomarker [487]
EGR3 OTGPJIRA Strong Biomarker [488]
EIF2A OTWXELQP Strong Biomarker [489]
EIF2S3 OTARRES9 Strong Biomarker [490]
ELFN1 OTM7M52U Strong Genetic Variation [491]
ELMO1 OTY2ORXK Strong Altered Expression [492]
ELP4 OTP5GZ9V Strong Genetic Variation [493]
EMC1 OTYAH4LX Strong Genetic Variation [494]
EPM2A OTJU4IAG Strong Biomarker [495]
ERMARD OTRKAQ2L Strong Genetic Variation [496]
EXOSC3 OTNCF906 Strong Genetic Variation [497]
EXT1 OTRPALJK Strong Biomarker [434]
FABP7 OTRE2H4G Strong Biomarker [342]
FASTK OTTHFZMP Strong Genetic Variation [498]
FBLIM1 OTFHXMON Strong Biomarker [499]
FIG4 OT501PY9 Strong Genetic Variation [500]
FOXD3 OTXYV6GO Strong Biomarker [501]
FOXG1 OTAW57J4 Strong Biomarker [93]
FOXO4 OT90X9LN Strong Biomarker [502]
FOXRED1 OTYEB8YK Strong Genetic Variation [503]
FTSJ1 OTNE7W96 Strong Biomarker [504]
GAB2 OTBFN705 Strong Altered Expression [505]
GABARAP OTAQUX6E Strong Biomarker [506]
GABBR1 OTU5A52J Strong Biomarker [507]
GABRA4 OT5I7OI2 Strong Biomarker [488]
GABRB3 OT80C3D4 Strong Genetic Variation [508]
GEMIN2 OT4L6TLL Strong Genetic Variation [509]
GFER OTVK43OK Strong Biomarker [510]
GLRA2 OTDQ0KW7 Strong Biomarker [511]
GLRB OTF37UG4 Strong Biomarker [512]
GLUD1 OTXKOCUH Strong Genetic Variation [513]
GLUD2 OTF3GGYY Strong Biomarker [514]
GNB5 OT3ZSAXH Strong Genetic Variation [515]
GOPC OTRBGH71 Strong Biomarker [499]
GRIN3B OT7T1OJP Strong Altered Expression [516]
GTF2A1L OTDQHVAI Strong Biomarker [409]
HACD1 OTEC7EP7 Strong Biomarker [446]
HCLS1 OTX7WGYN Strong Altered Expression [517]
HECW2 OTP2IN12 Strong Biomarker [518]
HIP1 OT7AKCFQ Strong Genetic Variation [519]
HNRNPU OTLQN1E2 Strong Genetic Variation [520]
HOMER1 OTWFD3SI Strong Biomarker [521]
HSPB6 OTFPLGZI Strong Biomarker [522]
HSPBAP1 OTRYDAZX Strong Altered Expression [523]
IER3IP1 OTCYSU28 Strong Genetic Variation [524]
IGFALS OTTWCZYM Strong Genetic Variation [407]
IQSEC2 OTYFRM4Q Strong Genetic Variation [525]
IRF2BPL OTV8MNT1 Strong Genetic Variation [526]
KANSL1 OTYNSNNZ Strong Genetic Variation [527]
KCNAB1 OT25GJE9 Strong Genetic Variation [528]
KCNIP3 OTCQPEM4 Strong Biomarker [529]
KCNK10 OT93GC7V Strong Altered Expression [530]
KCNK5 OT68V64E Strong Biomarker [531]
KCNV2 OTLS8OU5 Strong Biomarker [532]
KCTD7 OTRU3EOK Strong Genetic Variation [533]
KHSRP OTDHZARB Strong Altered Expression [517]
KIF22 OTY6X6BL Strong Genetic Variation [420]
KRT10 OTSVRD3Q Strong Biomarker [534]
L2HGDH OTW6C712 Strong Biomarker [535]
LAMB1 OT6J9LJR Strong Altered Expression [536]
LAMC3 OTKNAYJO Strong Genetic Variation [537]
LAT OTZC1XZ1 Strong Altered Expression [538]
LEPROT OT2EENVA Strong Biomarker [479]
LGI1 OTPS77HO Strong Biomarker [539]
LGI4 OTZGS8BN Strong Biomarker [540]
LGSN OTQG5Z82 Strong Biomarker [434]
LIAS OTOSW67J Strong Altered Expression [541]
LMAN2L OTJ9FAWS Strong Genetic Variation [542]
LRFN4 OT7RWBKE Strong Biomarker [543]
LTBP3 OTME98V7 Strong Biomarker [544]
MAGEE1 OTOQQO2X Strong Biomarker [545]
MAPK8IP3 OT0X8ACY Strong Biomarker [546]
MARCHF6 OTBTA03N Strong Biomarker [547]
MAST4 OT3LOE2J Strong Genetic Variation [161]
MCF2L OTEURA8N Strong Biomarker [229]
ME2 OTO4LL76 Strong Biomarker [548]
MED1 OTOO24C4 Strong Altered Expression [549]
MEF2C OTZGF1Y5 Strong Biomarker [550]
MICAL1 OTJEDVWA Strong Biomarker [551]
MLLT3 OTXH4DDG Strong Genetic Variation [552]
MPLKIP OTV7BX5A Strong Genetic Variation [553]
MTHFD1 OTMKHVWC Strong Genetic Variation [554]
NANS OTMQ2FUH Strong Biomarker [555]
NAPA OTG1BGGO Strong Biomarker [556]
NAPB OTCUENKD Strong Genetic Variation [557]
ND6 OTG47B7B Strong Genetic Variation [558]
NDRG4 OTJBOTD8 Strong Biomarker [559]
NEDD4L OT1B19RU Strong Biomarker [102]
NEUROD1 OTZQ7QJ2 Strong Biomarker [560]
NEXMIF OT576F40 Strong Biomarker [93]
NHLRC1 OTRQ0A4W Strong Biomarker [561]
NHS OTKE8QAT Strong Genetic Variation [562]
NIPA1 OT9ODC8X Strong Genetic Variation [563]
NKX6-2 OT7FI94W Strong Altered Expression [564]
NONO OTN36Q6U Strong Biomarker [565]
NPAS4 OTA3HH6W Strong Biomarker [521]
NPFF OT3WXFPR Strong Biomarker [566]
NPRL2 OTOB10MO Strong Biomarker [567]
NPTN OTAQKSAU Strong Genetic Variation [433]
NRXN3 OTJ0I7HJ Strong Genetic Variation [568]
NSF OTKRJ2ZT Strong Altered Expression [569]
NUP98 OTNT12G2 Strong Genetic Variation [407]
NUS1 OT4DQ82L Strong Genetic Variation [570]
OGA OT7ZBWT1 Strong Biomarker [571]
OLFML3 OTDN45FN Strong Genetic Variation [435]
OPN1MW OTPJ7LX4 Strong Biomarker [572]
OR2AG1 OTEITRP4 Strong Altered Expression [573]
P2RX2 OT0LF34A Strong Biomarker [246]
PACS1 OT9TMQL3 Strong Genetic Variation [574]
PACS2 OTPU9HUA Strong Genetic Variation [574]
PAK3 OT80M3BV Strong Genetic Variation [575]
PANX1 OTXPEDOK Strong Biomarker [576]
PANX2 OTAQ2S8R Strong Biomarker [577]
PARS2 OTMBBH7K Strong Genetic Variation [578]
PCDH10 OT2GIT0E Strong Genetic Variation [579]
PCDH12 OT2VANLI Strong Biomarker [580]
PCDH7 OTP091X8 Strong Biomarker [581]
PCMT1 OTGYVSGU Strong Biomarker [582]
PCP4 OTM1XXYX Strong Biomarker [125]
PDHA1 OTGEU8IK Strong Biomarker [583]
PDP1 OT82RTMT Strong Genetic Variation [583]
PDYN OTEJ6430 Strong Altered Expression [584]
PEX5 OTK4LMG7 Strong CausalMutation [585]
PHEX OTG7N3J7 Strong Biomarker [586]
PHLDA1 OTFTWMIQ Strong Altered Expression [587]
PHOX2A OTVS3R2X Strong Genetic Variation [588]
PHOX2B OT3SFR2O Strong Biomarker [589]
PICK1 OT8QE6EU Strong Altered Expression [590]
PIGH OTMCFF0K Strong Genetic Variation [591]
PIGM OTY98K40 Strong Genetic Variation [592]
PIGN OTHHTJKX Strong Genetic Variation [593]
PIGQ OTOD93DQ Strong Biomarker [594]
PIGT OTWA8819 Strong Biomarker [595]
PIGW OTT9SMTF Strong Biomarker [596]
PIK3R4 OTRL8QP8 Strong Genetic Variation [597]
PLK3 OT19CT2Z Strong Biomarker [291]
PLP1 OT8CM9CX Strong Genetic Variation [598]
PLPBP OT9DZ8P6 Strong Genetic Variation [599]
POGZ OT4CYWC1 Strong Biomarker [600]
POU2F1 OTK7ELJ0 Strong Genetic Variation [601]
PPP1CB OTYFTYFR Strong Genetic Variation [602]
PQBP1 OTXCBEAH Strong Biomarker [504]
PRICKLE2 OTWBA48T Strong Genetic Variation [603]
PRM3 OT6574BF Strong Biomarker [604]
PTOV1 OT94WT5X Strong Biomarker [605]
PTPRD OTZPJ3GX Strong Genetic Variation [606]
PUM2 OT2H7NXV Strong Biomarker [607]
PURA OT975ELW Strong Biomarker [93]
RAB39B OTDCLLT0 Strong Genetic Variation [608]
RAI1 OTKLQU00 Strong Biomarker [483]
RAN OT2TER5M Strong Genetic Variation [483]
RAPGEF2 OTZWX2AA Strong Biomarker [609]
RARS2 OT3WLAD8 Strong Biomarker [285]
RASGRF1 OTNWJ7EN Strong Posttranslational Modification [610]
RBFOX2 OTXY1WVH Strong Genetic Variation [611]
RELA OTUJP9CN Strong Biomarker [612]
RELN OTLKMW1O Strong Biomarker [613]
REM1 OTUXL0HC Strong Biomarker [614]
REST OTLL92LQ Strong Altered Expression [615]
RHOBTB2 OT2DATFX Strong Genetic Variation [616]
RHOT1 OTBIRR8Q Strong Biomarker [617]
RMDN1 OTE1NB6U Strong Biomarker [618]
RMDN2 OTK5WSFI Strong Biomarker [618]
RMDN3 OTKO7AUM Strong Biomarker [618]
RNASE12 OTIMF82Y Strong Biomarker [483]
RNASET2 OTWY64L7 Strong Biomarker [619]
RPL10 OTBHOZGC Strong Genetic Variation [620]
RPS19 OTBKGP48 Strong Genetic Variation [621]
RPS27A OTIIGGZ2 Strong Biomarker [298]
RTCA OTSJRVTD Strong Biomarker [327]
RYR2 OT0PF19E Strong Biomarker [622]
SC5D OT41KMW4 Strong Biomarker [339]
SCAF11 OTX59D0X Strong Genetic Variation [509]
SCN1B OTGD78J3 Strong Genetic Variation [623]
SCN3B OTNTQT9O Strong Biomarker [624]
SCN7A OTK05PXY Strong Biomarker [625]
SCNN1D OTTX2G9M Strong Altered Expression [626]
SELENOW OTVSKPAN Strong Biomarker [297]
SEMA7A OT0ZJK64 Strong Altered Expression [627]
SERPINB6 OT7G55IK Strong Biomarker [446]
SETD1A OTVVWRIC Strong Biomarker [628]
SEZ6 OTCD8K5D Strong Genetic Variation [629]
SH3GL2 OTOE443G Strong Biomarker [630]
SHC2 OTTWMRNQ Strong Biomarker [631]
SHMT1 OTIINA3J Strong Genetic Variation [632]
SIGLEC7 OTNDLURR Strong Altered Expression [517]
SLC2A4RG OTW3LX8D Strong Genetic Variation [633]
SLC35F1 OTRXHR2P Strong Genetic Variation [570]
SLC35G1 OTKZUA8O Strong Genetic Variation [477]
SLC44A3 OTL0FT8L Strong Biomarker [634]
SMC1A OT9ZMRK9 Strong Genetic Variation [635]
SMG6 OTRCEJQL Strong Genetic Variation [636]
SND1 OTT734JN Strong Biomarker [637]
SNX25 OT8JY8M1 Strong Altered Expression [638]
SORBS1 OTWH8762 Strong Biomarker [446]
SORCS2 OTBF3DYK Strong Biomarker [639]
SPARCL1 OT74DWMV Strong Biomarker [640]
SPAST OTIF3AJI Strong Biomarker [641]
SPG11 OTZ7LJX4 Strong Genetic Variation [642]
SRCIN1 OTQZNQQ5 Strong Altered Expression [643]
SRF OTW18FQN Strong Biomarker [644]
SRPX2 OT6A63TX Strong Biomarker [645]
ST8SIA2 OTRBBBD8 Strong Genetic Variation [646]
STAMBP OTOT2OXM Strong Genetic Variation [446]
STON1 OT2HPUAI Strong Biomarker [409]
STRADA OTG1Z6TY Strong Genetic Variation [647]
SUCO OT3I9VO9 Strong Biomarker [648]
SV2B OTAO5WIU Strong Genetic Variation [649]
SV2C OTIH108W Strong Genetic Variation [649]
SYBU OT3FQV7N Strong Biomarker [618]
SYNGAP1 OT41HVYQ Strong Genetic Variation [650]
SYNM OTOI8TRJ Strong Biomarker [185]
SYNPO OTICDJAB Strong Biomarker [651]
SYT2 OTJYGTY4 Strong Genetic Variation [180]
TARS2 OTXQY23P Strong Genetic Variation [652]
TAS2R38 OTX5MM36 Strong Genetic Variation [447]
TBC1D24 OTKZUSMD Strong Genetic Variation [653]
TBCK OTP38GVK Strong Genetic Variation [654]
TCOF1 OT4BOYTM Strong Genetic Variation [655]
TESC OTI8C76M Strong Biomarker [266]
TFCP2 OTA246TE Strong Altered Expression [143]
TIGAR OTR7NMRJ Strong Biomarker [656]
TIMM50 OTWJNUQL Strong Genetic Variation [657]
TLE4 OT4QEH6T Strong Biomarker [658]
TMCO1 OTSME34W Strong Genetic Variation [659]
TMEM25 OTIMMWZ6 Strong Biomarker [660]
TMX1 OTX4FHYQ Strong Biomarker [167]
TRAF1 OTTLM5RU Strong Biomarker [661]
TRAPPC10 OTF6EAQX Strong Biomarker [662]
TRIB3 OTG5OS7X Strong Biomarker [663]
TRMT10A OTQ5AKN4 Strong Biomarker [664]
TSPAN31 OT8WQ83R Strong Biomarker [555]
TSPEAR OT2LKDD0 Strong Biomarker [665]
ADAM22 OT452ZDC Definitive Genetic Variation [666]
ADAM23 OTVWT6JZ Definitive Biomarker [667]
ADGRG1 OTQBB8NT Definitive Genetic Variation [668]
APOBEC1 OTY8QX2R Definitive Biomarker [669]
CALB2 OTSNMCG9 Definitive Biomarker [658]
CELF4 OT4FS4F5 Definitive Genetic Variation [670]
CHD2 OTRKL6YC Definitive Genetic Variation [671]
CLOCK OTNEOJY7 Definitive Biomarker [672]
CNKSR2 OTAGERJ2 Definitive Genetic Variation [673]
CNTNAP2 OT48T2ZP Definitive Genetic Variation [674]
CYFIP1 OTOBEH24 Definitive Altered Expression [156]
EPRS1 OTXK0FLB Definitive Biomarker [371]
FGF12 OTBM9QIO Definitive Genetic Variation [675]
FGF13 OTHNNVSG Definitive Biomarker [676]
FMR1 OTWEV0T5 Definitive Genetic Variation [677]
FOSB OTW6C05J Definitive Altered Expression [312]
FRRS1L OT24ABVC Definitive Genetic Variation [678]
GABRA6 OTX4UC3O Definitive Genetic Variation [679]
GABRG2 OTGNDWUO Definitive Autosomal dominant [89]
GLRA3 OTC8C2NC Definitive Genetic Variation [680]
KCNAB2 OTH115IE Definitive Genetic Variation [681]
KIF4A OT3UWL7D Definitive Biomarker [637]
MAP6 OTPUI00F Definitive Biomarker [682]
MARCHF1 OTI2EYO6 Definitive Genetic Variation [683]
MCAT OTH07FIW Definitive Genetic Variation [311]
MCTS1 OT7SAOJP Definitive Genetic Variation [311]
MEF2A OTV2SF6E Definitive Biomarker [684]
NARS2 OTL5X535 Definitive Genetic Variation [685]
NRXN1 OTJN1JQA Definitive Genetic Variation [686]
PHF6 OT8DXI40 Definitive Biomarker [687]
PIGA OT51UWUR Definitive Genetic Variation [688]
PLXNA1 OTN0BING Definitive Genetic Variation [449]
POLG OTDUCT04 Definitive Genetic Variation [689]
SAMD12 OTIFG9O6 Definitive Genetic Variation [609]
SCN2B OTFAHJ38 Definitive Biomarker [690]
SGCE OT9F17JB Definitive Genetic Variation [691]
SGSM3 OTIB1P8A Definitive Biomarker [618]
SHROOM4 OT33GO6E Definitive Biomarker [692]
SLA2 OTNVE666 Definitive Biomarker [370]
SMS OT8JYKNH Definitive Biomarker [693]
SPTAN1 OT6VY3A3 Definitive Genetic Variation [694]
SRI OT4R3EAC Definitive Genetic Variation [695]
STX1A OTSBUZB4 Definitive Genetic Variation [696]
SUCLA2 OTMZD4PW Definitive Genetic Variation [697]
SYN1 OTMNPWC1 Definitive Biomarker [185]
SYNJ1 OTTE02XC Definitive Genetic Variation [698]
SYP OTFJKMO4 Definitive Altered Expression [205]
TAT OT2CJ91O Definitive Biomarker [699]
TLE5 OTEH0BFG Definitive Genetic Variation [316]
TMTC3 OTMTTDYG Definitive Biomarker [465]
TSC2 OT47LWI9 Definitive Biomarker [700]
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References

1 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2 Drug load and memory during intracarotid amobarbital procedure in epilepsy. Acta Neurol Scand. 2021 Nov;144(5):585-591.
3 New molecular targets for antiepileptic drugs: alpha(2)delta, SV2A, and K(v)7/KCNQ/M potassium channels. Curr Neurol Neurosci Rep. 2008 Jul;8(4):345-52.
4 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5339).
5 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7149).
6 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6963).
7 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 3364).
8 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7182).
9 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5473).
10 Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
11 Antibodies and venom peptides: new modalities for ion channels. Nat Rev Drug Discov. 2019 May;18(5):339-357.
12 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 2622).
13 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6826).
14 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7223).
15 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7230).
16 Methsuximide FDA Label
17 Malformation in infants of mothers with epilepsy receiving antiepileptic drugs. Neurology. 1992 Apr;42(4 Suppl 5):68-74.
18 Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
19 Drug information of Nitrazepam, 2008. eduDrugs.
20 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7254).
21 Paramethadione FDA Label
22 Pentobarbital FDA Label
23 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7265).
24 Phenobarbital FDA Label
25 Phensuximide FDA Label
26 Therapeutic Drug Monitoring of Antiepileptic Drugs in Epilepsy: A 2018 Update. Ther Drug Monit. 2018 Oct;40(5):526-548. doi: 10.1097/FTD.0000000000000546.
27 Pregabalin FDA Label
28 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5338).
29 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7470).
30 Secobarbital FDA Label
31 Sertraline FDA Label
32 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5469).
33 Thiopental FDA Label
34 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4818).
35 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 6849).
36 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7316).
37 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7009).
38 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 4821).
39 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7047).
40 Progress report on new antiepileptic drugs: a summary of the Ninth Eilat Conference (EILAT IX). Epilepsy Res. 2009 Jan;83(1):1-43.
41 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800032715)
42 ClinicalTrials.gov (NCT02535091) Safety and Pharmacokinetic Study of YKP3089 as Adjunctive Therapy in Subjects With Partial Onset Seizures.
43 ClinicalTrials.gov (NCT03370120) Study to Test the Safety and Efficacy of Padsevonil as Adjunctive Treatment of Focal-onset Seizures in Adult Subjects With Drug-resistant Epilepsy. U.S. National Institutes of Health.
44 Pralnacasan, an inhibitor of interleukin-1beta converting enzyme, reduces joint damage in two murine models of osteoarthritis. Osteoarthritis Cartilage. 2003 Oct;11(10):738-46.
45 ClinicalTrials.gov (NCT02365610) A Study of GWP42006 in People With Focal Seizures - Part B. U.S. National Institutes of Health.
46 Kv7 potassium channel activation with ICA-105665 reduces photoparoxysmal EEG responses in patients with epilepsy. Epilepsia. 2013 Aug;54(8):1437-43.
47 ClinicalTrials.gov (NCT00579384) A Study of the Effects of JNJ-26489112 on the Photic Induced Paroxysmal Electroencephalogram (EEG) Response in Patients With Photosensitive Epilepsy. U.S. National Institutes of Health.
48 ClinicalTrials.gov (NCT04836559) A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of JNJ-40411813 as Adjunctive Therapy in Subjects With Focal Onset Seizures With Suboptimal Response to Levetiracetam or Brivaracetam. U.S.National Institutes of Health.
49 The efficacy of the AMPA receptor antagonist NS1209 and lidocaine in nerve injury pain: a randomized, double-blind, placebo-controlled, three-way crossover study. Anesth Analg. 2009 Apr;108(4):1311-9.
50 ClinicalTrials.gov (NCT01302873) Study of BGG492 in Patients With Chronic Subjective Tinnitus. U.S. National Institutes of Health.
51 ClinicalTrials.gov (NCT00939653) T2007-002 Clofarabine, Etoposide, Cyclophosphamide in Relapsed Acute Myelogenous Leukemia (AML). U.S. National Institutes of Health.
52 ClinicalTrials.gov (NCT00534560) Dose Ranging Study of the Efficacy and Tolerability of Tonabersat in the Prophylaxis of Migraine Headache. U.S. National Institutes of Health.
53 ClinicalTrials.gov (NCT02495844) A Study of UCB0942 in Adult Patients With Highly Drug-resistant Focal Epilepsy.
54 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800035668)
55 MDL 27,531 reduces spontaneous hindlimb contractions in rats with chronic transections of the spinal cord. Neurosci Lett. 1992 Nov 23;147(1):101-5.
56 ClinicalTrials.gov (NCT01062867) First Administration to Man Of Org 25435 a New Intravenous Anesthetic. U.S. National Institutes of Health.
57 ClinicalTrials.gov (NCT01691274) A Study In Healthy People To Evaluate Safety, Toleration And Time Course Of Plasma Concentration Of Multiple Oral Doses Of PF-04895162. U.S. National Institutes of Health.
58 Emerging drugs for epilepsy. Expert Opin Emerg Drugs. 2007 Sep;12(3):407-22.
59 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002233)
60 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800003060)
61 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800010984)
62 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800010724)
63 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002235)
64 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800010331)
65 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002249)
66 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800012515)
67 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 5130).
68 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002237)
69 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800021837)
70 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 1069).
71 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800001960)
72 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800011757)
73 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800011029)
74 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800011792)
75 The Development of a New Manufacturing Route to the Novel Anticonvulsant, SB406725A. Organic Process Research & Development. 01/2010; 14(1):108-113.
76 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005802)
77 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005804)
78 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005355)
79 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800003367)
80 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800008896)
81 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800016674)
82 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800016675)
83 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800019092)
84 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800002236)
85 Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800005172)
86 The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
87 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Target id: 972).
88 Valproic Acid FDA Label
89 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
90 Analysis of Clinical Characteristics and Poor Prognostic Predictors in Patients With an Initial Diagnosis of Autoimmune Encephalitis.Front Immunol. 2019 Jun 7;10:1286. doi: 10.3389/fimmu.2019.01286. eCollection 2019.
91 A review of filamin A mutations and associated interstitial lung disease.Eur J Pediatr. 2019 Feb;178(2):121-129. doi: 10.1007/s00431-018-3301-0. Epub 2018 Dec 13.
92 Spectrum of GABAA receptor variants in epilepsy.Curr Opin Neurol. 2019 Apr;32(2):183-190. doi: 10.1097/WCO.0000000000000657.
93 De novo variants in neurodevelopmental disorders with epilepsy.Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
94 Mutant GABA(A) receptor subunits in genetic (idiopathic) epilepsy.Prog Brain Res. 2014;213:55-85. doi: 10.1016/B978-0-444-63326-2.00003-X.
95 Selective deletion of glutamine synthetase in the mouse cerebral cortex induces glial dysfunction and vascular impairment that precede epilepsy and neurodegeneration.Neurochem Int. 2019 Feb;123:22-33. doi: 10.1016/j.neuint.2018.07.009. Epub 2018 Jul 24.
96 Transient Switching of NMDA-Dependent Long-Term Synaptic Potentiation in CA3-CA1 Hippocampal Synapses to mGluR(1)-Dependent Potentiation After Pentylenetetrazole-Induced Acute Seizures in Young Rats.Cell Mol Neurobiol. 2019 Mar;39(2):287-300. doi: 10.1007/s10571-018-00647-3. Epub 2019 Jan 3.
97 Cardiorespiratory profiling reveals primary breathing dysfunction in Kcna1-null mice: Implications for sudden unexpected death in epilepsy.Neurobiol Dis. 2019 Jul;127:502-511. doi: 10.1016/j.nbd.2019.04.006. Epub 2019 Apr 8.
98 KCNC1-related disorders: new de novo variants expand the phenotypic spectrum.Ann Clin Transl Neurol. 2019 Jul;6(7):1319-1326. doi: 10.1002/acn3.50799. Epub 2019 Jun 7.
99 Novel venom-derived inhibitors of the human EAG channel, a putative antiepileptic drug target.Biochem Pharmacol. 2018 Dec;158:60-72. doi: 10.1016/j.bcp.2018.08.038. Epub 2018 Aug 25.
100 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia. 2013 Jul;54(7):1270-81. doi: 10.1111/epi.12201. Epub 2013 May 3.
101 Neurobiology and consequences of social isolation stress in animal model-A comprehensive review.Biomed Pharmacother. 2018 Sep;105:1205-1222. doi: 10.1016/j.biopha.2018.05.086. Epub 2018 Jun 22.
102 PLPP/CIN-mediated NEDD4-2 S448 dephosphorylation regulates neuronal excitability via GluA1 ubiquitination.Cell Death Dis. 2019 Jul 18;10(8):545. doi: 10.1038/s41419-019-1781-0.
103 G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters.Neurol Sci. 2019 Jul;40(7):1457-1460. doi: 10.1007/s10072-019-03752-3. Epub 2019 Mar 4.
104 Expression of Multidrug Resistance Genes in Peripheral Blood of Patients with Refractory Epilepsy and the Reverse Effect of Oxcarbazepine on Its Expression.Iran J Public Health. 2018 Jan;47(1):40-48.
105 Investigation of inhibitory properties of some hydrazone compounds on hCA I, hCA II and AChE enzymes.Bioorg Chem. 2019 May;86:316-321. doi: 10.1016/j.bioorg.2019.02.008. Epub 2019 Feb 4.
106 Insulin attenuates epileptiform discharge-induced oxidative stress by increasing zinc-2-glycoprotein in primary cultured cortical neurons.Neuroreport. 2019 May 22;30(8):580-585. doi: 10.1097/WNR.0000000000001250.
107 The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.Neurobiol Dis. 2005 Dec;20(3):799-804. doi: 10.1016/j.nbd.2005.05.013. Epub 2005 Jun 17.
108 Neurovascular Drug Biotransformation Machinery in Focal Human Epilepsies: Brain CYP3A4 Correlates with Seizure Frequency and Antiepileptic Drug Therapy.Mol Neurobiol. 2019 Dec;56(12):8392-8407. doi: 10.1007/s12035-019-01673-y. Epub 2019 Jun 26.
109 Neural Networks in Generalized Epilepsy and Novel Antiepileptic Drugs.Curr Pharm Des. 2019;25(4):396-400. doi: 10.2174/1381612825666190319121505.
110 Characterization by array-CGH of an interstitial de novo tandem 6p21.2p22.1 duplication in a boy with epilepsy and developmental delay.Eur J Med Genet. 2008 Jul-Aug;51(4):373-81. doi: 10.1016/j.ejmg.2008.02.010. Epub 2008 Mar 28.
111 Positive modulation of mGluR5 attenuates seizures and reduces TNF-(+) macrophages and microglia in the brain in a murine model of virus-induced temporal lobe epilepsy.Exp Neurol. 2019 Jan;311:194-204. doi: 10.1016/j.expneurol.2018.10.006. Epub 2018 Oct 11.
112 Effects of HCN2 Mutations on Dendritic Excitability and Synaptic Plasticity: A Computational Study.Neuroscience. 2019 Dec 15;423:148-161. doi: 10.1016/j.neuroscience.2019.10.019. Epub 2019 Nov 1.
113 Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.Neuroscientist. 2018 Aug;24(4):368-380. doi: 10.1177/1073858418763752. Epub 2018 Mar 15.
114 Complexes formed with integrin-5 and KCNB1 potassium channel wild type or epilepsy-susceptibility variants modulate cellular plasticity via Ras and Akt signaling.FASEB J. 2019 Dec;33(12):14680-14689. doi: 10.1096/fj.201901792R. Epub 2019 Nov 2.
115 Seizure-like episodes and EEG abnormalities in patients with long QT syndrome.Seizure. 2018 Oct;61:214-220. doi: 10.1016/j.seizure.2018.08.020. Epub 2018 Aug 27.
116 Nervous system KV7 disorders: breakdown of a subthreshold brake.J Physiol. 2008 Apr 1;586(7):1791-801. doi: 10.1113/jphysiol.2008.150656. Epub 2008 Jan 31.
117 SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.Hum Mol Genet. 2015 Dec 15;24(24):7111-20. doi: 10.1093/hmg/ddv410. Epub 2015 Oct 1.
118 Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. Hum Genet. 2017 Feb;136(2):253-261. doi: 10.1007/s00439-016-1751-x. Epub 2016 Nov 30.
119 In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells.PLoS One. 2017 Oct 20;12(10):e0186919. doi: 10.1371/journal.pone.0186919. eCollection 2017.
120 Increased Bcl-w expression following focally evoked limbic seizures in the rat.Neurosci Lett. 2001 Jun 15;305(3):153-6. doi: 10.1016/s0304-3940(01)01849-3.
121 Autoradiographic analysis of rat brain kinin B1 and B2 receptors: normal distribution and alterations induced by epilepsy.J Comp Neurol. 2003 Jul 7;461(4):506-19. doi: 10.1002/cne.10706.
122 Acute phase expression pattern of ZnTs, LC3, and beclin-1 in rat Hippocampus and its regulation by 3-methyladenine following recurrent neonatal seizures.Biol Trace Elem Res. 2011 Oct;143(1):320-31. doi: 10.1007/s12011-010-8836-5. Epub 2010 Sep 14.
123 Involvement of over-expressed BMP4 in pentylenetetrazol kindling-induced cell proliferation in the dentate gyrus of adult rats.Biochem Biophys Res Commun. 2007 Mar 30;355(1):54-60. doi: 10.1016/j.bbrc.2007.01.107. Epub 2007 Jan 29.
124 [Protective effects of levetiracetam and simvastatin on pilocarpine-induced epilepsy in rat models].Sichuan Da Xue Xue Bao Yi Xue Ban. 2015 Mar;46(2):201-4.
125 Intracellular Peptides in Cell Biology and Pharmacology.Biomolecules. 2019 Apr 16;9(4):150. doi: 10.3390/biom9040150.
126 The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning.Hippocampus. 2019 Feb;29(2):102-110. doi: 10.1002/hipo.23015. Epub 2018 Dec 6.
127 Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.Brain Dev. 2017 Jan;39(1):67-71. doi: 10.1016/j.braindev.2016.07.004. Epub 2016 Jul 30.
128 Inhibition of Cgkii Suppresses Seizure Activity and Hippocampal Excitation by Regulating the Postsynaptic Delivery of Glua1.Cell Physiol Biochem. 2018;46(1):160-177. doi: 10.1159/000488419. Epub 2018 Mar 21.
129 Uncaria rhynchophylla upregulates the expression of MIF and cyclophilin A in kainic acid-induced epilepsy rats: A proteomic analysis.Am J Chin Med. 2010;38(4):745-59. doi: 10.1142/S0192415X10008214.
130 [Expression of Merlin in cortex of temporal lobe and in hippocampal CA1 region of the Kindling Model of Epilepsy induced by corciaria lactone in rats].Sichuan Da Xue Xue Bao Yi Xue Ban. 2006 Jan;37(1):115-7.
131 Review of studies that have used knockout mice to assess normal function of prion protein under immunological or pathophysiological stress.Microbiol Immunol. 2014 Jul;58(7):361-74. doi: 10.1111/1348-0421.12162.
132 Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine.Neurol Res. 2010 Feb;32(1):106-12. doi: 10.1179/174313209X408954. Epub 2009 Jun 30.
133 The activity of some neurotransmitter-synthetizing enzymes in experimental cobalt epilepsy.Neurosci Lett. 1978 Jan;7(1):83-7. doi: 10.1016/0304-3940(78)90117-9.
134 Pregabalin peptides: conformational comparison of (3)- and (4)-substituted -amino acids in pentapeptides.Amino Acids. 2019 Sep;51(9):1297-1306. doi: 10.1007/s00726-019-02768-5. Epub 2019 Aug 19.
135 ABC Transporters in Neurological Disorders: An Important Gateway for Botanical Compounds Mediated Neuro-Therapeutics.Curr Top Med Chem. 2019;19(10):795-811. doi: 10.2174/1568026619666190412121811.
136 ABHD6: Its Place in Endocannabinoid Signaling and Beyond.Trends Pharmacol Sci. 2019 Apr;40(4):267-277. doi: 10.1016/j.tips.2019.02.002. Epub 2019 Mar 7.
137 FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes.Cytogenet Cell Genet. 1996;74(3):221-4. doi: 10.1159/000134420.
138 Differential Expression of Adenosine P1 Receptor ADORA1 and ADORA2A Associated with Glioma Development and Tumor-Associated Epilepsy.Neurochem Res. 2016 Jul;41(7):1774-83. doi: 10.1007/s11064-016-1893-1. Epub 2016 Apr 2.
139 Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.J Physiol. 2005 Dec 1;569(Pt 2):433-45. doi: 10.1113/jphysiol.2005.094326. Epub 2005 Oct 6.
140 Alpha2A adrenergic receptor activation inhibits epileptiform activity in the rat hippocampal CA3 region.Mol Pharmacol. 2007 Jun;71(6):1572-81. doi: 10.1124/mol.106.031773. Epub 2007 Mar 6.
141 Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.Hum Mol Genet. 2015 Sep 15;24(18):5250-9. doi: 10.1093/hmg/ddv245. Epub 2015 Jun 29.
142 Anticonvulsant action of a selective phosphatidylinositol-3-kinase inhibitor LY294002 in pentylenetetrazole-mediated convulsions in zebrafish.Epilepsy Res. 2019 Nov;157:106207. doi: 10.1016/j.eplepsyres.2019.106207. Epub 2019 Sep 17.
143 Glucose Deficiency Elevates Acid-Sensing Ion Channel 2a Expression and Increases Seizure Susceptibility in Temporal Lobe Epilepsy.Sci Rep. 2017 Jul 19;7(1):5870. doi: 10.1038/s41598-017-05038-0.
144 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan;63(1):103624. doi: 10.1016/j.ejmg.2019.01.014. Epub 2019 Jan 25.
145 De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain. 2018 Jun 1;141(6):1703-1718. doi: 10.1093/brain/awy092.
146 Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 2012 Oct 19;338(6105):394-7. doi: 10.1126/science.1224631. Epub 2012 Sep 6.
147 Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum.Clin Genet. 2018 Feb;93(2):368-373. doi: 10.1111/cge.13067. Epub 2017 Oct 6.
148 Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion.Amyotroph Lateral Scler Frontotemporal Degener. 2017 Feb;18(1-2):140-141. doi: 10.1080/21678421.2016.1231825. Epub 2016 Sep 21.
149 Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.Cephalalgia. 2018 Feb;38(2):361-373. doi: 10.1177/0333102416686347. Epub 2017 Jan 6.
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180 GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy.Epilepsy Res. 2015 Sep;115:88-94. doi: 10.1016/j.eplepsyres.2015.05.014. Epub 2015 Jun 2.
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208 Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.Haematologica. 2007 Dec;92(12):e123-5. doi: 10.3324/haematol.11973.
209 The Lactate Receptor HCAR1 Modulates Neuronal Network Activity through the Activation of G() and G() Subunits.J Neurosci. 2019 Jun 5;39(23):4422-4433. doi: 10.1523/JNEUROSCI.2092-18.2019. Epub 2019 Mar 29.
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212 Role of Histone Deacetylases (HDACs) in Epilepsy and Epileptogenesis.Curr Pharm Des. 2017;23(37):5546-5562. doi: 10.2174/1381612823666171024130001.
213 Glycyrrhizin, an HMGB1 inhibitor, exhibits neuroprotective effects in rats after lithium-pilocarpine-induced status epilepticus.J Pharm Pharmacol. 2019 Mar;71(3):390-399. doi: 10.1111/jphp.13040. Epub 2018 Nov 12.
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215 Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.Clin Genet. 2016 May;89(5):574-83. doi: 10.1111/cge.12738. Epub 2016 Feb 9.
216 Akt pathway activation and increased neuropeptide Y mRNA expression in the rat hippocampus: implications for seizure blockade.Neuropeptides. 2010 Apr;44(2):169-76. doi: 10.1016/j.npep.2009.12.007. Epub 2010 Jan 12.
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218 Electrophysiological features of sleep in children with Kir4.1 channel mutations and Autism-Epilepsy phenotype: a preliminary study.Sleep. 2020 Apr 15;43(4):zsz255. doi: 10.1093/sleep/zsz255.
219 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.Am J Med Genet A. 2011 Jan;155A(1):113-9. doi: 10.1002/ajmg.a.33735. Epub 2010 Dec 10.
220 Identification of common genetic markers of paroxysmal neurological disorders using a network analysis approach.Neurol Sci. 2020 Apr;41(4):851-857. doi: 10.1007/s10072-019-04113-w. Epub 2019 Dec 6.
221 Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening.J Gen Physiol. 2019 Feb 4;151(2):247-257. doi: 10.1085/jgp.201812221. Epub 2018 Dec 21.
222 Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.Eur J Med Genet. 2019 Sep;62(9):103555. doi: 10.1016/j.ejmg.2018.10.007. Epub 2018 Oct 22.
223 De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy.Ann Neurol. 2018 Jun;83(6):1198-1204. doi: 10.1002/ana.25248.
224 Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved?.Clin Genet. 2016 Sep;90(3):276-81. doi: 10.1111/cge.12767. Epub 2016 Mar 23.
225 Molecular motor KIF5A is essential for GABA(A) receptor transport, and KIF5A deletion causes epilepsy. Neuron. 2012 Dec 6;76(5):945-61. doi: 10.1016/j.neuron.2012.10.012.
226 Decreased levels of active uPA and KLK8 assessed by [(111) In]MICA-401 binding correlate with the seizure burden in an animal model of temporal lobe epilepsy.Epilepsia. 2017 Sep;58(9):1615-1625. doi: 10.1111/epi.13845. Epub 2017 Jul 19.
227 Differential Gene Expression Profile Induced by Valproic Acid (VPA) in Pediatric Epileptic Patients.Genes (Basel). 2018 Jun 28;9(7):328. doi: 10.3390/genes9070328.
228 Metabolic correlates of cognitive function in children with unilateral Sturge-Weber syndrome: Evidence for regional functional reorganization and crowding.Hum Brain Mapp. 2018 Apr;39(4):1596-1606. doi: 10.1002/hbm.23937. Epub 2017 Dec 23.
229 Use of the mixed reality tool "VSI Patient Education" for more comprehensible and imaginable patient educations before epilepsy surgery and stereotactic implantation of DBS or stereo-EEG electrodes.Epilepsy Res. 2020 Jan;159:106247. doi: 10.1016/j.eplepsyres.2019.106247. Epub 2019 Nov 26.
230 Role of JNK isoforms in the kainic acid experimental model of epilepsy and neurodegeneration.Front Biosci (Landmark Ed). 2017 Jan 1;22(5):795-814. doi: 10.2741/4517.
231 S-nitrosylation of E3 ubiquitin-protein ligase RNF213 alters non-canonical Wnt/Ca+2 signaling in the P301S mouse model of tauopathy.Transl Psychiatry. 2019 Jan 29;9(1):44. doi: 10.1038/s41398-019-0388-7.
232 Glycine transporter 1 is a target for the treatment of epilepsy.Neuropharmacology. 2015 Dec;99:554-65. doi: 10.1016/j.neuropharm.2015.08.031. Epub 2015 Aug 21.
233 Acute epileptic seizures in myelin oligodendrocyte glycoprotein encephalomyelitis and neuromyelitis optica spectrum disorder: A comparative cohort study.Mult Scler Relat Disord. 2019 Jan;27:281-288. doi: 10.1016/j.msard.2018.11.007. Epub 2018 Nov 10.
234 Associations between genetic variation in one-carbon metabolism and leukocyte DNA methylation in valproate-treated patients with epilepsy.Clin Nutr. 2018 Feb;37(1):308-312. doi: 10.1016/j.clnu.2017.01.004. Epub 2017 Jan 20.
235 Is cerebral involvement an occasional feature of muscle-specific kinase antibody-positive syndrome?.Eur J Neurol. 2007 Aug;14(8):e21-2. doi: 10.1111/j.1468-1331.2007.01873.x.
236 MicroRNA-421 suppresses the apoptosis and autophagy of hippocampal neurons in epilepsy mice model by inhibition of the TLR/MYD88 pathway.J Cell Physiol. 2018 Sep;233(9):7022-7034. doi: 10.1002/jcp.26498. Epub 2018 Mar 25.
237 Alteration of Gene Associated with Retinoid-interferon-induced Mortality-19-expressing Cell Types in the Mouse Hippocampus Following Pilocarpine-induced Status Epilepticus.Neuroscience. 2020 Jan 15;425:49-58. doi: 10.1016/j.neuroscience.2019.11.015. Epub 2019 Nov 29.
238 Therapeutic Targets for the Treatment of Comorbidities Associated with Epilepsy.Curr Mol Pharmacol. 2020;13(2):85-93. doi: 10.2174/1874467212666191203101606.
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240 Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.Eur J Hum Genet. 2006 Sep;14(9):1009-17. doi: 10.1038/sj.ejhg.5201661. Epub 2006 Jun 14.
241 Distribution and expression of brain-derived neurotrophic factor, nerve growth factor, and neurotrophic factor-3 in refractory epilepsy-associated focal cortical dysplasia.Clin Neuropathol. 2017 Sep/Oct;36(5):233-239. doi: 10.5414/NP301026.
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243 Mu- and delta-opioid receptor-mediated epileptoid responses in morphine-dependent and non-dependent rats.Electroencephalogr Clin Neurophysiol. 1985 Dec;61(6):569-72. doi: 10.1016/0013-4694(85)90976-9.
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245 Roles of K(+) and cation channels in ORL-1 receptor-mediated depression of neuronal excitability and epileptic activities in the medial entorhinal cortex.Neuropharmacology. 2019 Jun;151:144-158. doi: 10.1016/j.neuropharm.2019.04.017. Epub 2019 Apr 15.
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247 The interaction between P2X7Rs and T-type calcium ion channels in penicillin-induced epileptiform activity.Neuropharmacology. 2019 May 1;149:1-12. doi: 10.1016/j.neuropharm.2019.01.027. Epub 2019 Jan 26.
248 Microglial P2Y12 Receptor Regulates Seizure-Induced Neurogenesis and Immature Neuronal Projections.J Neurosci. 2019 Nov 20;39(47):9453-9464. doi: 10.1523/JNEUROSCI.0487-19.2019. Epub 2019 Oct 9.
249 mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex.Neuropsychopharmacology. 2018 May;43(6):1457-1465. doi: 10.1038/npp.2017.295. Epub 2017 Dec 5.
250 Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.Am J Med Genet A. 2017 Jul;173(7):1936-1942. doi: 10.1002/ajmg.a.38217. Epub 2017 Apr 25.
251 Nuclear phospholipase C isoenzyme imbalance leads to pathologies in brain, hematologic, neuromuscular, and fertility disorders.J Lipid Res. 2019 Feb;60(2):312-317. doi: 10.1194/jlr.R089763. Epub 2018 Oct 4.
252 The direct and indirect costs of epilepsy in Poland estimates for 2014-2016 years.Expert Rev Pharmacoecon Outcomes Res. 2019 Jun;19(3):353-362. doi: 10.1080/14737167.2019.1533817. Epub 2018 Oct 24.
253 ACTH and PMX53 recover synaptic transcriptome alterations in a rat model of infantile spasms.Sci Rep. 2018 Apr 10;8(1):5722. doi: 10.1038/s41598-018-24013-x.
254 Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25.
255 Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.J Alzheimers Dis. 2013;37(4):653-9. doi: 10.3233/JAD-130746.
256 Quantitative Proteomic Analysis To Identify Differentially Expressed Proteins in Myocardium of Epilepsy Using iTRAQ Coupled with Nano-LC-MS/MS.J Proteome Res. 2018 Jan 5;17(1):305-314. doi: 10.1021/acs.jproteome.7b00579. Epub 2017 Nov 8.
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258 RBPJ is disrupted in a case of proximal 4p deletion syndrome with epilepsy.Brain Dev. 2014 Jun;36(6):532-6. doi: 10.1016/j.braindev.2013.07.009. Epub 2013 Aug 16.
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261 Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29.
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266 Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.Ann Clin Transl Neurol. 2019 Feb 25;6(3):475-485. doi: 10.1002/acn3.722. eCollection 2019 Mar.
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272 Expression and functions of glutamate and aminobutyric acid transporters in ischemic models.Mol Med Rep. 2018 Jun;17(6):8196-8202. doi: 10.3892/mmr.2018.8888. Epub 2018 Apr 16.
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274 Losartan suppresses the kainate-induced changes of angiotensin AT(1) receptor expression in a model of comorbid hypertension and epilepsy.Life Sci. 2018 Jan 15;193:40-46. doi: 10.1016/j.lfs.2017.12.006. Epub 2017 Dec 6.
275 Highly selective SGLT2 inhibitor dapagliflozin reduces seizure activity in pentylenetetrazol-induced murine model of epilepsy.BMC Neurol. 2018 Jun 7;18(1):81. doi: 10.1186/s12883-018-1086-4.
276 HDAC4 gene silencing alleviates epilepsy by inhibition of GABA in a rat model.Neuropsychiatr Dis Treat. 2019 Feb 4;15:405-416. doi: 10.2147/NDT.S181669. eCollection 2019.
277 Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome.Neuropharmacology. 2019 Dec 15;161:107572. doi: 10.1016/j.neuropharm.2019.03.015. Epub 2019 Mar 15.
278 High expression of cystine-glutamate antiporter xCT (SLC7A11) is an independent biomarker for epileptic seizures at diagnosis in glioma.J Neurooncol. 2018 May;138(1):49-53. doi: 10.1007/s11060-018-2785-9. Epub 2018 Feb 5.
279 KB-R7943 reduces 4-aminopyridine-induced epileptiform activity in adult rats after neuronal damage induced by neonatal monosodium glutamate treatment.J Biomed Sci. 2017 May 9;24(1):27. doi: 10.1186/s12929-017-0335-y.
280 Emerging roles of Na?H?exchangers in epilepsy and developmental brain disorders.Prog Neurobiol. 2016 Mar-May;138-140:19-35. doi: 10.1016/j.pneurobio.2016.02.002. Epub 2016 Mar 8.
281 ABCC2 rs2273697 is associated with valproic acid concentrations in patients with epilepsy on valproic acid monotherapy.Pharmazie. 2018 May 1;73(5):279-282. doi: 10.1691/ph.2018.7344.
282 Hippocampal CA3 transcriptome signature correlates with initial precipitating injury in refractory mesial temporal lobe epilepsy.PLoS One. 2011;6(10):e26268. doi: 10.1371/journal.pone.0026268. Epub 2011 Oct 14.
283 Levetiracetam-induced a new seizure type in a girl with a novel SV2A gene mutation.Clin Neurol Neurosurg. 2019 Jun;181:64-66. doi: 10.1016/j.clineuro.2019.03.020. Epub 2019 Mar 28.
284 De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.Sci Rep. 2017 Jun 6;7(1):2887. doi: 10.1038/s41598-017-02792-z.
285 Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy.PLoS One. 2019 Mar 28;14(3):e0214250. doi: 10.1371/journal.pone.0214250. eCollection 2019.
286 Up-regulated BAFF and BAFF receptor expression in patients with intractable temporal lobe epilepsy and a pilocarpine-induced epilepsy rat model.Seizure. 2017 May;48:79-88. doi: 10.1016/j.seizure.2017.03.016. Epub 2017 Apr 8.
287 Management of lamotrigine overdose using hemodialysis.Am J Emerg Med. 2019 Aug;37(8):1603.e1-1603.e2. doi: 10.1016/j.ajem.2019.05.026. Epub 2019 May 15.
288 Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy. Ann Neurol. 2013 Sep;74(3):496-501. doi: 10.1002/ana.23934. Epub 2013 Sep 4.
289 Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.Clin Chim Acta. 2019 May;492:69-71. doi: 10.1016/j.cca.2019.02.010. Epub 2019 Feb 13.
290 Up-Regulation of Trem2 Inhibits Hippocampal Neuronal Apoptosis and Alleviates Oxidative Stress in Epilepsy via the PI3K/Akt Pathway in Mice.Neurosci Bull. 2019 Jun;35(3):471-485. doi: 10.1007/s12264-018-0324-5. Epub 2019 Jan 25.
291 Long-term antiepileptic effects of chronic intake of CNK-602A, a thyrotropin-releasing hormone analogue, on spontaneously epileptic rats.Epilepsia. 1996 Apr;37(4):328-31. doi: 10.1111/j.1528-1157.1996.tb00567.x.
292 Contribution of Zinc-Dependent Delayed Calcium Influx via TRPC5 in Oxidative Neuronal Death and its Prevention by Novel TRPC Antagonist.Mol Neurobiol. 2019 Apr;56(4):2822-2835. doi: 10.1007/s12035-018-1258-7. Epub 2018 Jul 31.
293 De novo substitutions of TRPM3 cause intellectual disability and epilepsy. Eur J Hum Genet. 2019 Oct;27(10):1611-1618. doi: 10.1038/s41431-019-0462-x. Epub 2019 Jul 5.
294 Increased risk of post-stroke epilepsy in Chinese patients with a TRPM6 polymorphism.Neurol Res. 2019 Apr;41(4):378-383. doi: 10.1080/01616412.2019.1568755. Epub 2019 Feb 9.
295 Suppressive Effects of Cooling Compounds Icilin on Penicillin G-Induced Epileptiform Discharges in Anesthetized Rats.Front Pharmacol. 2019 Jun 13;10:652. doi: 10.3389/fphar.2019.00652. eCollection 2019.
296 Hashimoto's Encephalopathy and Seizure Disorders.Front Neurol. 2019 May 8;10:440. doi: 10.3389/fneur.2019.00440. eCollection 2019.
297 Changes in the expression of selenoproteins in mesial temporal lobe epilepsy patients.Cell Mol Neurobiol. 2009 Dec;29(8):1223-31. doi: 10.1007/s10571-009-9418-y.
298 The diagnostic value of serum UCHL-1 and S100-B levels in differentiate epileptic seizures from psychogenic attacks.Brain Res. 2019 Feb 1;1704:11-15. doi: 10.1016/j.brainres.2018.09.028. Epub 2018 Sep 22.
299 Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations.Res Dev Disabil. 2016 Sep;56:177-82. doi: 10.1016/j.ridd.2016.06.002.
300 Preliminary explorations of the role of mitochondrial proteins in refractory epilepsy: some findings from comparative proteomics.J Neurosci Res. 2007 Nov 1;85(14):3160-70. doi: 10.1002/jnr.21384.
301 Target-specific alterations in the VIP inhibitory drive to hippocampal GABAergic cells after status epilepticus.Exp Neurol. 2017 Jun;292:102-112. doi: 10.1016/j.expneurol.2017.03.007. Epub 2017 Mar 15.
302 Increased expression of WNK3 in dispersed granule cells in hippocampal sclerosis of mesial temporal lobe epilepsy patients.Epilepsy Res. 2018 Nov;147:58-61. doi: 10.1016/j.eplepsyres.2018.09.006. Epub 2018 Sep 17.
303 Cognition and quality of life in patients with poststroke epilepsy: A case-control study.Epilepsy Behav. 2020 Mar;104(Pt B):106444. doi: 10.1016/j.yebeh.2019.106444. Epub 2019 Aug 30.
304 Regulation of ADAM10 by MicroRNA-23a Contributes to Epileptogenesis in Pilocarpine-Induced Status Epilepticus Mice.Front Cell Neurosci. 2019 Apr 30;13:180. doi: 10.3389/fncel.2019.00180. eCollection 2019.
305 Role of Adenosine Kinase Inhibitor in Adenosine Augmentation Therapy for Epilepsy: A Potential Novel Drug for Epilepsy.Curr Drug Targets. 2020;21(3):252-257. doi: 10.2174/1389450119666191014104347.
306 Nitrobenzylthioinosine mimics adenosine to attenuate the epileptiform discharge of hippocampal neurons from epileptic rats.Oncotarget. 2017 May 30;8(22):35573-35582. doi: 10.18632/oncotarget.16012.
307 Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis.J Neurochem. 2017 Mar;140(6):919-940. doi: 10.1111/jnc.13950.
308 Expression analysis of beta-secretase 1 (BACE1) and its naturally occurring antisense (BACE1-AS) in blood of epileptic patients.Neurol Sci. 2018 Sep;39(9):1565-1569. doi: 10.1007/s10072-018-3458-3. Epub 2018 Jun 2.
309 New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.Hum Mol Genet. 2017 Aug 1;26(15):2923-2932. doi: 10.1093/hmg/ddx175.
310 Cacna1g is a genetic modifier of epilepsy in a mouse model of Dravet syndrome.Epilepsia. 2017 Aug;58(8):e111-e115. doi: 10.1111/epi.13811. Epub 2017 May 28.
311 Correlation of MCT1 and ABCC2 gene polymorphisms with valproic acid resistance in patients with epilepsy on valproic acid monotherapy.Drug Metab Pharmacokinet. 2019 Jun;34(3):165-171. doi: 10.1016/j.dmpk.2018.01.006. Epub 2018 Mar 16.
312 Geniposide attenuates epilepsy symptoms in a mouse model through the PI3K/Akt/GSK-3 signaling pathway.Exp Ther Med. 2018 Jan;15(1):1136-1142. doi: 10.3892/etm.2017.5512. Epub 2017 Nov 14.
313 A potential role for neuronal connexin 36 in the pathogenesis of amyotrophic lateral sclerosis.Neurosci Lett. 2018 Feb 14;666:1-4. doi: 10.1016/j.neulet.2017.12.027. Epub 2017 Dec 12.
314 Antioxidant polymorphisms do not influence the risk of epilepsy or its drug resistance after neonatal hypoxic-ischemic brain injury.Seizure. 2017 Mar;46:38-42. doi: 10.1016/j.seizure.2017.01.005. Epub 2017 Feb 3.
315 Hsp90 inhibitors prevent GLT-1 degradation but have no beneficial efficacy on absence epilepsy.J Asian Nat Prod Res. 2019 Sep;21(9):905-915. doi: 10.1080/10286020.2018.1530989. Epub 2018 Nov 17.
316 Methodological standards for invitro models of epilepsy and epileptic seizures. A TASK1-WG4 report of the AES/ILAE Translational Task Force of the ILAE.Epilepsia. 2017 Nov;58 Suppl 4(Suppl 4):40-52. doi: 10.1111/epi.13901.
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318 Kininogen Level in the Cerebrospinal Fluid May Be a Potential Biomarker for Predicting Epileptogenesis.Front Neurol. 2019 Jan 31;10:37. doi: 10.3389/fneur.2019.00037. eCollection 2019.
319 The C-terminal flanking peptide of neuropeptide Y (NPY) is not essential for seizure-suppressant actions of prepro-NPY overexpression in male rats.J Neurosci Res. 2019 Mar;97(3):362-372. doi: 10.1002/jnr.24350. Epub 2018 Oct 27.
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324 Epilepsy-causing sequence variations in SIK1 disrupt synaptic activity response gene expression and affect neuronal morphology.Eur J Hum Genet. 2017 Feb;25(2):216-221. doi: 10.1038/ejhg.2016.145. Epub 2016 Dec 14.
325 Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.Ann Neurol. 2019 Jun;85(6):921-926. doi: 10.1002/ana.25477. Epub 2019 Apr 26.
326 Effects of Comedication and Genetic Factors on the Population Pharmacokinetics of Lamotrigine: A Prospective Analysis in Chinese Patients With Epilepsy.Front Pharmacol. 2019 Jul 25;10:832. doi: 10.3389/fphar.2019.00832. eCollection 2019.
327 Structural and molecular aspects of betaine-GABA transporter 1 (BGT1) and its relation to brain function.Neuropharmacology. 2019 Dec 15;161:107644. doi: 10.1016/j.neuropharm.2019.05.021. Epub 2019 May 18.
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346 Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine.J Inherit Metab Dis. 2019 May;42(3):494-500. doi: 10.1002/jimd.12081. Epub 2019 Apr 8.
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351 Demyelination contributes to depression comorbidity in a rat model of chronic epilepsy via dysregulation of Olig2/LINGO-1 and disturbance of calcium homeostasis.Exp Neurol. 2019 Nov;321:113034. doi: 10.1016/j.expneurol.2019.113034. Epub 2019 Aug 12.
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360 Association between EPHX1 polymorphisms and carbamazepine metabolism in epilepsy: a meta-analysis.Int J Clin Pharm. 2019 Dec;41(6):1414-1428. doi: 10.1007/s11096-019-00919-y. Epub 2019 Oct 24.
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362 Association of Nicotinamide-N-Methyltransferase Gene rs694539 Variant with Epilepsy.Mol Neurobiol. 2016 Aug;53(6):4197-4200. doi: 10.1007/s12035-015-9364-2. Epub 2015 Jul 28.
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364 Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.Psychiatr Genet. 2008 Feb;18(1):40-2. doi: 10.1097/YPG.0b013e3282f08a3d.
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366 Epilepsy, cerebral calcifications, and gluten-related disorders: Are anti-transglutaminase 6 antibodies the missing link?.Seizure. 2019 Dec;73:17-20. doi: 10.1016/j.seizure.2019.10.012. Epub 2019 Oct 16.
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368 Effects of UGT1A9 genetic polymorphisms on monohydroxylated derivative of oxcarbazepine concentrations and oxcarbazepine monotherapeutic efficacy in Chinese patients with epilepsy.Eur J Clin Pharmacol. 2017 Mar;73(3):307-315. doi: 10.1007/s00228-016-2157-3. Epub 2016 Nov 29.
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371 Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20.
372 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
373 Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2509-21. doi: 10.1167/iovs.15-18680.
374 Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.Proc Natl Acad Sci U S A. 2018 Apr 10;115(15):E3559-E3568. doi: 10.1073/pnas.1717082115. Epub 2018 Mar 26.
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401 Targeted hippocampal GABA neuron ablation by Stable Substance P-saporin causes hippocampal sclerosis and chronic epilepsy in rats.Epilepsia. 2019 May;60(5):e52-e57. doi: 10.1111/epi.14723. Epub 2019 Apr 8.
402 Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.
403 Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry.Front Neurol. 2019 Oct 25;10:1144. doi: 10.3389/fneur.2019.01144. eCollection 2019.
404 Epilepsy stigma in Saudi Arabia: The roles of mind-body dualism, supernatural beliefs, and religiosity.Epilepsy Behav. 2019 Jun;95:175-180. doi: 10.1016/j.yebeh.2019.04.022. Epub 2019 May 6.
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406 Genetic polymorphism and idiopathic generalized epilepsy. Evidence of interaction between haptoglobin and ACP1 systems.Neuropediatrics. 2008 Dec;39(6):357-8. doi: 10.1055/s-0029-1202834. Epub 2009 Jun 30.
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410 Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.Hum Genet. 2019 Dec;138(11-12):1259-1266. doi: 10.1007/s00439-019-02065-x. Epub 2019 Sep 25.
411 ALG13 Deficiency Associated with Increased Seizure Susceptibility and Severity.Neuroscience. 2019 Jun 15;409:204-221. doi: 10.1016/j.neuroscience.2019.03.009. Epub 2019 Mar 12.
412 ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.J Inherit Metab Dis. 2016 Sep;39(5):713-723. doi: 10.1007/s10545-016-9945-x. Epub 2016 Jun 10.
413 Multimodality imaging for improved detection of epileptogenic foci in tuberous sclerosis complex.Neurology. 2000 May 23;54(10):1976-84. doi: 10.1212/wnl.54.10.1976.
414 Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28.Hum Genet. 2009 Nov;126(5):677-83. doi: 10.1007/s00439-009-0718-6. Epub 2009 Jul 14.
415 Autosomal dominant early childhood seizures associated with chondrocalcinosis and a mutation in the ANKH Gene.Epilepsia. 2004 Oct;45(10):1258-60. doi: 10.1111/j.0013-9580.2004.19504.x.
416 A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. Am J Hum Genet. 2019 Jun 6;104(6):1060-1072. doi: 10.1016/j.ajhg.2019.04.001. Epub 2019 May 16.
417 Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.Eur J Med Genet. 2019 Nov;62(11):103583. doi: 10.1016/j.ejmg.2018.11.017. Epub 2018 Nov 22.
418 Autoimmune Epilepsy.Neurotherapeutics. 2019 Jul;16(3):685-702. doi: 10.1007/s13311-019-00750-3.
419 Down-regulation of APLP1 mRNA expression in hippocampus of pilocarpine-induced epileptic rats.Neurosci Bull. 2009 Jun;25(3):109-14. doi: 10.1007/s12264-009-1229-0.
420 Assessment of the neuropsychiatric comorbidities in Chinese children with epilepsy using the MINI-KID tool.Epilepsy Res. 2018 Feb;140:8-14. doi: 10.1016/j.eplepsyres.2017.11.011. Epub 2017 Nov 24.
421 Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABA(A) receptors. Neurobiol Dis. 2020 Feb;134:104632. doi: 10.1016/j.nbd.2019.104632. Epub 2019 Oct 31.
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425 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 4;88(3):499-513. doi: 10.1016/j.neuron.2015.09.048.
426 A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.Brain Dev. 2019 Mar;41(3):285-291. doi: 10.1016/j.braindev.2018.10.008. Epub 2018 Nov 2.
427 A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. Hum Mol Genet. 2005 Apr 15;14(8):1019-27. doi: 10.1093/hmg/ddi094. Epub 2005 Mar 3.
428 Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21.
429 EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.Eur J Med Genet. 2020 Apr;63(4):103799. doi: 10.1016/j.ejmg.2019.103799. Epub 2019 Oct 23.
430 Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962.
431 Branch atheromatous disease has a stronger association with late-onset epileptic seizures than lacunar infarction in Japanese patients.J Int Med Res. 2020 Jan;48(1):300060519831572. doi: 10.1177/0300060519831572. Epub 2019 Mar 6.
432 Association of ABCB1,CYP3A4,EPHX1,FAS,SCN1A,MICA, andBAG6 polymorphisms with the risk of carbamazepine-induced Stevens-Johnson syndrome/toxic epidermal necrolysis in Chinese Han patients with epilepsy.Epilepsia. 2014 Aug;55(8):1301-6. doi: 10.1111/epi.12655. Epub 2014 May 23.
433 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14.
434 Pathogenesis of Lennox-Gastaut syndrome: considerations and hypotheses.Epileptic Disord. 2001 Dec;3(4):183-96.
435 A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.Epilepsia Open. 2019 Jan 17;4(1):102-109. doi: 10.1002/epi4.12297. eCollection 2019 Mar.
436 Protein therapy for Unverricht-Lundborg disease using cystatin B transduction by TAT-PTD. Is it that simple?.Epilepsy Res. 2006 Nov;72(1):75-9. doi: 10.1016/j.eplepsyres.2006.07.009. Epub 2006 Aug 22.
437 Nestin-expressing cell types in the temporal lobe and hippocampus: Morphology, differentiation, and proliferative capacity.Glia. 2018 Jan;66(1):62-77. doi: 10.1002/glia.23211. Epub 2017 Sep 19.
438 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.Neuropediatrics. 2015 Dec;46(6):392-400. doi: 10.1055/s-0035-1564791. Epub 2015 Nov 4.
439 CACHD1 is an 2-Like Protein That Modulates Ca(V)3 Voltage-Gated Calcium Channel Activity.J Neurosci. 2018 Oct 24;38(43):9186-9201. doi: 10.1523/JNEUROSCI.3572-15.2018. Epub 2018 Sep 4.
440 Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6.
441 Depression and Temporal Lobe Epilepsy: Expression Pattern of Calbindin Immunoreactivity in Hippocampal Dentate Gyrus of Patients Who Underwent Epilepsy Surgery with and without Comorbid Depression.Behav Neurol. 2019 May 2;2019:7396793. doi: 10.1155/2019/7396793. eCollection 2019.
442 A polymorphism in CALHM1 is associated with temporal lobe epilepsy.Epilepsy Behav. 2011 Apr;20(4):681-5. doi: 10.1016/j.yebeh.2011.02.007. Epub 2011 Mar 24.
443 Polymorphisms in CACNA1E and Camk2d are associated with seizure susceptibility of Sprague-Dawley rats.Epilepsy Res. 2010 Sep;91(1):28-34. doi: 10.1016/j.eplepsyres.2010.06.006. Epub 2010 Jul 16.
444 MiR-125a-5p Alleviates Dysfunction and Inflammation of Pentylenetetrazol- induced Epilepsy Through Targeting Calmodulin-dependent Protein Kinase IV (CAMK4).Curr Neurovasc Res. 2019;16(4):365-372. doi: 10.2174/1567202616666190906125444.
445 The potential role of CAMSAP1L1 in symptomatic epilepsy.Neurosci Lett. 2013 Nov 27;556:146-51. doi: 10.1016/j.neulet.2013.10.020. Epub 2013 Oct 20.
446 Earlyonset epilepsy and microcephalycapillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.Mol Med Rep. 2019 Dec;20(6):5145-5151. doi: 10.3892/mmr.2019.10757. Epub 2019 Oct 17.
447 Genetic epidemiology of epilepsy: a twin study.Neurol India. 2005 Mar;53(1):93-8. doi: 10.4103/0028-3886.15070.
448 Identification of a novel CCM2 gene mutation in an Italian family with multiple cerebral cavernous malformations and epilepsy: a causative mutation?.Gene. 2013 Apr 25;519(1):202-7. doi: 10.1016/j.gene.2012.09.045. Epub 2012 Sep 19.
449 Whole exome sequencing reveals novel NOV and DCAF13 variants in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy.Neurosci Lett. 2018 Sep 25;684:115-120. doi: 10.1016/j.neulet.2018.07.014. Epub 2018 Jul 9.
450 Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy.Epilepsia. 2018 Aug;59(8):1557-1566. doi: 10.1111/epi.14516. Epub 2018 Jul 16.
451 Microduplication of 3p26.3 in nonsyndromic intellectual disability indicates an important role of CHL1 for normal cognitive function.Neuropediatrics. 2013 Oct;44(5):268-71. doi: 10.1055/s-0033-1333874. Epub 2013 Feb 22.
452 Migraine and epilepsy: a focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects.Curr Pain Headache Rep. 2010 Aug;14(4):276-83. doi: 10.1007/s11916-010-0121-y.
453 De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.Mol Psychiatry. 2018 Feb;23(2):222-230. doi: 10.1038/mp.2016.135. Epub 2016 Aug 23.
454 Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models.Annu Rev Physiol. 2005;67:779-807. doi: 10.1146/annurev.physiol.67.032003.153245.
455 Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.Clin Genet. 2010 Jan;77(1):79-85. doi: 10.1111/j.1399-0004.2009.01285.x. Epub 2009 Oct 5.
456 De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy.Genet Med. 2020 Apr;22(4):797-802. doi: 10.1038/s41436-019-0703-y. Epub 2019 Nov 28.
457 Increased expression of calponin-3 in epileptic patients and experimental rats.Exp Neurol. 2012 Jan;233(1):430-7. doi: 10.1016/j.expneurol.2011.11.014. Epub 2011 Nov 15.
458 Schizophrenia and epilepsy as a result of maternally inherited CNTN6 copy number variant.Schizophr Res. 2018 Dec;202:111-112. doi: 10.1016/j.schres.2018.06.062. Epub 2018 Jul 6.
459 CNTNAP4 Impacts Epilepsy Through GABAA Receptors Regulation: Evidence From Temporal Lobe Epilepsy Patients and Mouse Models.Cereb Cortex. 2018 Oct 1;28(10):3491-3504. doi: 10.1093/cercor/bhx215.
460 Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.Pediatr Nephrol. 2009 Sep;24(9):1673-81. doi: 10.1007/s00467-009-1184-z. Epub 2009 May 15.
461 ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?.Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23.
462 In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.Eur J Med Genet. 2017 Mar;60(3):172-177. doi: 10.1016/j.ejmg.2016.12.009. Epub 2016 Dec 24.
463 Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur J Hum Genet. 2017 Jun;25(7):889-893. doi: 10.1038/ejhg.2017.52. Epub 2017 Apr 19.
464 Association of CYP2C9, CYP2A6, ACSM2A, and CPT1A gene polymorphisms with adverse effects of valproic acid in Chinese patients with epilepsy.Epilepsy Res. 2017 May;132:64-69. doi: 10.1016/j.eplepsyres.2017.02.015. Epub 2017 Feb 27.
465 Self-Management education for adults with poorly controlled epILEpsy [SMILE (UK)]: a randomised controlled trial.Health Technol Assess. 2018 Apr;22(21):1-142. doi: 10.3310/hta22210.
466 Cannabinoid Receptor Interacting Protein 1a (CRIP1a): Function and Structure.Molecules. 2019 Oct 12;24(20):3672. doi: 10.3390/molecules24203672.
467 Germline de novo variants in CSNK2B in Chinese patients with epilepsy.Sci Rep. 2019 Nov 29;9(1):17909. doi: 10.1038/s41598-019-53484-9.
468 Pore-Forming Proteins as Mediators of Novel Epigenetic Mechanism of Epilepsy.Front Neurol. 2017 Jan 18;8:3. doi: 10.3389/fneur.2017.00003. eCollection 2017.
469 -Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. Neurology. 2017 Dec 5;89(23):2341-2350. doi: 10.1212/WNL.0000000000004709. Epub 2017 Nov 10.
470 Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation.Hum Mol Genet. 2012 Oct 1;21(19):4270-85. doi: 10.1093/hmg/dds261. Epub 2012 Jul 3.
471 The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant. Ann Neurol. 2018 May;83(5):926-934. doi: 10.1002/ana.25222. Epub 2018 Apr 30.
472 Mitochondrial DNA variant m.15218A?G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.BMC Med Genet. 2013 Jul 19;14:73. doi: 10.1186/1471-2350-14-73.
473 Death-associated protein kinase expression in human temporal lobe epilepsy.Ann Neurol. 2004 Apr;55(4):485-94. doi: 10.1002/ana.20001.
474 Doublecortin-expressing cell types in temporal lobe epilepsy.Acta Neuropathol Commun. 2018 Jul 13;6(1):60. doi: 10.1186/s40478-018-0566-5.
475 Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. J Med Genet. 2015 Sep;52(9):607-11. doi: 10.1136/jmedgenet-2015-103083. Epub 2015 Jun 5.
476 Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature.J Child Neurol. 2016 Mar;31(3):338-44. doi: 10.1177/0883073815595078. Epub 2015 Jul 17.
477 Underestimation of sudden deaths among patients with seizures and epilepsy.Neurology. 2017 Aug 29;89(9):886-892. doi: 10.1212/WNL.0000000000004292. Epub 2017 Aug 2.
478 Expression, Purification, and Properties of a Human Arachidonoyl-Specific Isoform of Diacylglycerol Kinase.Biochemistry. 2017 Mar 7;56(9):1337-1347. doi: 10.1021/acs.biochem.6b01193. Epub 2017 Feb 24.
479 Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.Mol Genet Metab. 2012 Jul;106(3):345-50. doi: 10.1016/j.ymgme.2012.04.026. Epub 2012 May 10.
480 DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct;72(4):550-8. doi: 10.1002/ana.23632.
481 Altered expression of Dscam in temporal lobe tissue from human and experimental animals.Synapse. 2011 Oct;65(10):975-82. doi: 10.1002/syn.20924. Epub 2011 Mar 28.
482 Activation of nicotinamide adenine dinucleotide phosphate oxidase is the primary trigger of epileptic seizures in rodent models.Ann Neurol. 2019 Jun;85(6):907-920. doi: 10.1002/ana.25474. Epub 2019 Apr 12.
483 IL-1-31/IL1-RA genetic markers association with idiopathic generalized epilepsy and treatment response in a cohort of Egyptian population.Int J Neurosci. 2020 Apr;130(4):348-354. doi: 10.1080/00207454.2019.1688809. Epub 2019 Nov 7.
484 Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4.
485 The Characteristics and Long-Term Course of Epilepsy in Lipoid Proteinosis: A Spectrum From Mild to Severe Seizures in Relation to ECM1 Mutations.Clin EEG Neurosci. 2018 May;49(3):192-196. doi: 10.1177/1550059417705280. Epub 2017 Apr 23.
486 Mild epileptic phenotype associates with de novo eef1a2 mutation: Case report and review.Brain Dev. 2020 Jan;42(1):77-82. doi: 10.1016/j.braindev.2019.08.001. Epub 2019 Aug 30.
487 Ephrinb3 modulates hippocampal neurogenesis and the reelin signaling pathway in a pilocarpineinduced model of epilepsy.Int J Mol Med. 2018 Jun;41(6):3457-3467. doi: 10.3892/ijmm.2018.3543. Epub 2018 Mar 7.
488 Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression.Proc Natl Acad Sci U S A. 2005 Aug 16;102(33):11894-9. doi: 10.1073/pnas.0501434102. Epub 2005 Aug 9.
489 Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.Am J Hum Genet. 2019 Jun 6;104(6):1182-1201. doi: 10.1016/j.ajhg.2019.04.011. Epub 2019 May 23.
490 EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat. 2017 Apr;38(4):409-425. doi: 10.1002/humu.23170. Epub 2017 Jan 23.
491 Elfn1 recruits presynaptic mGluR7 in trans and its loss results in seizures.Nat Commun. 2014 Jul 22;5:4501. doi: 10.1038/ncomms5501.
492 Kainic Acid Induces mTORC1-Dependent Expression of Elmo1 in Hippocampal Neurons.Mol Neurobiol. 2017 May;54(4):2562-2578. doi: 10.1007/s12035-016-9821-6. Epub 2016 Mar 19.
493 Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30.
494 A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy. Mol Genet Genomic Med. 2018 Mar;6(2):282-287. doi: 10.1002/mgg3.352. Epub 2017 Dec 22.
495 Malin and laforin are essential components of a protein complex that protects cells from thermal stress.J Cell Sci. 2011 Jul 1;124(Pt 13):2277-86. doi: 10.1242/jcs.082800. Epub 2011 Jun 7.
496 Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20.
497 A rat model for LGI1-related epilepsies.Hum Mol Genet. 2012 Aug 15;21(16):3546-57. doi: 10.1093/hmg/dds184. Epub 2012 May 15.
498 An animal model of genetic predisposition to develop acquired epileptogenesis: The FAST and SLOW rats.Epilepsia. 2019 Oct;60(10):2023-2036. doi: 10.1111/epi.16329. Epub 2019 Aug 29.
499 Valproic acid, a histone deacetylase inhibitor, enhances sensitivity to doxorubicin in anaplastic thyroid cancer cells.J Endocrinol. 2006 Nov;191(2):465-72. doi: 10.1677/joe.1.06970.
500 Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development.Exp Neurol. 2016 Mar;277:86-95. doi: 10.1016/j.expneurol.2015.12.011. Epub 2015 Dec 19.
501 FOXD3 inhibits SCN2A gene transcription in intractable epilepsy cell models.Exp Neurol. 2018 Apr;302:14-21. doi: 10.1016/j.expneurol.2017.12.012. Epub 2017 Dec 28.
502 FOXO4 expression is associated with the occurrence and outcome of seizures: An RNA-sequencing analysis of low-grade gliomas.Seizure. 2017 Nov;52:41-45. doi: 10.1016/j.seizure.2017.09.012. Epub 2017 Sep 21.
503 A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.Mol Cell Biol. 2016 Jul 29;36(16):2132-40. doi: 10.1128/MCB.00066-16. Print 2016 Aug 15.
504 Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25.
505 Decreased expression of Gab2 in patients with temporal lobe epilepsy and pilocarpine-induced rat model.Synapse. 2014 Apr;68(4):168-77. doi: 10.1002/syn.21725. Epub 2013 Dec 20.
506 A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.J Hum Genet. 2010 Mar;55(3):155-62. doi: 10.1038/jhg.2010.1. Epub 2010 Jan 29.
507 Cell injury and receptor expression in the epileptic human amygdala.Neurobiol Dis. 2019 Apr;124:416-427. doi: 10.1016/j.nbd.2018.12.017. Epub 2018 Dec 24.
508 Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes.Brain. 2019 Oct 1;142(10):3028-3044. doi: 10.1093/brain/awz250.
509 Sip-1 mutations cause disturbances in the activity of NMDA- and AMPA-, but not kainate receptors of neurons in the cerebral cortex.Neurosci Lett. 2017 May 22;650:180-186. doi: 10.1016/j.neulet.2017.04.048. Epub 2017 Apr 25.
510 HPO-Shuffle: an associated gene prioritization strategy and its application in drug repurposing for the treatment of canine epilepsy.Biosci Rep. 2019 Sep 6;39(9):BSR20191247. doi: 10.1042/BSR20191247. Print 2019 Sep 30.
511 Epigenetic mechanisms underlying human epileptic disorders and the process of epileptogenesis.Neurobiol Dis. 2010 Jul;39(1):53-60. doi: 10.1016/j.nbd.2010.02.005. Epub 2010 Feb 24.
512 Inhibition of miR-203 Reduces Spontaneous Recurrent Seizures in Mice.Mol Neurobiol. 2017 Jul;54(5):3300-3308. doi: 10.1007/s12035-016-9901-7. Epub 2016 May 10.
513 Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.Eur J Endocrinol. 2009 Nov;161(5):731-5. doi: 10.1530/EJE-09-0615. Epub 2009 Aug 18.
514 Epilepsy with myoclonic atonic seizures and chronic cerebellar symptoms associated with antibodies against glutamate receptors N2B and D2 in serum and cerebrospinal fluid.Epileptic Disord. 2017 Mar 1;19(1):94-98. doi: 10.1684/epd.2017.0895.
515 Generation of the induced human pluripotent stem cell lines CSSi009-A from a patient with a GNB5 pathogenic variant, and CSSi010-A from a CRISPR/Cas9 engineered GNB5 knock-out human cell line.Stem Cell Res. 2019 Oct;40:101547. doi: 10.1016/j.scr.2019.101547. Epub 2019 Aug 22.
516 Correlations between the level of antibody against peptide of glutamate receptor NR3B subunit in the CSF and cognitive comorbidities of patients with epilepsy.Eur Rev Med Pharmacol Sci. 2019 Jan;23(1):328-337. doi: 10.26355/eurrev_201901_16780.
517 The transmembrane domain of the p75 neurotrophin receptor stimulates phosphorylation of the TrkB tyrosine kinase receptor.J Biol Chem. 2017 Oct 6;292(40):16594-16604. doi: 10.1074/jbc.M117.788729. Epub 2017 Aug 17.
518 Mutations in HECW2 are associated with intellectual disability and epilepsy.J Med Genet. 2016 Oct;53(10):697-704. doi: 10.1136/jmedgenet-2016-103814. Epub 2016 Jun 22.
519 Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12.
520 An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29.
521 Neuronal PAS domain protein 4 (Npas4) controls neuronal homeostasis in pentylenetetrazole-induced epilepsy through the induction of Homer1a.J Neurochem. 2018 Apr;145(1):19-33. doi: 10.1111/jnc.14274. Epub 2017 Dec 28.
522 Overexpressed HspB6 Underlines a Novel Inhibitory Role in Kainic Acid-Induced Epileptic Seizure in Rats by Activating the cAMP-PKA Pathway.Cell Mol Neurobiol. 2019 Jan;39(1):111-122. doi: 10.1007/s10571-018-0637-y. Epub 2018 Dec 3.
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524 Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet. 2011 Aug 12;89(2):265-76. doi: 10.1016/j.ajhg.2011.07.006.
525 An IQSEC2 Mutation Associated With Intellectual Disability and Autism Results in Decreased Surface AMPA Receptors.Front Mol Neurosci. 2019 Feb 20;12:43. doi: 10.3389/fnmol.2019.00043. eCollection 2019.
526 IRF2BPL gene mutation: Expanding on neurologic phenotypes.Am J Med Genet A. 2019 Nov;179(11):2263-2271. doi: 10.1002/ajmg.a.61328. Epub 2019 Aug 20.
527 The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.Epilepsia. 2017 Jun;58(6):1085-1094. doi: 10.1111/epi.13746. Epub 2017 Apr 25.
528 Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.PLoS One. 2015 Nov 6;10(11):e0141782. doi: 10.1371/journal.pone.0141782. eCollection 2015.
529 Reduced expression of calsenilin/DREAM/KChIP3 in the brains of kainic acid-induced seizure and epilepsy patients.Neurosci Lett. 2003 Apr 3;340(1):33-6. doi: 10.1016/s0304-3940(03)00067-3.
530 miRNA-187-3p-Mediated Regulation of the KCNK10/TREK-2 Potassium Channel in a Rat Epilepsy Model.ACS Chem Neurosci. 2016 Nov 16;7(11):1585-1594. doi: 10.1021/acschemneuro.6b00222. Epub 2016 Sep 22.
531 Identification and characterization of outcome measures reported in animal models of epilepsy: Protocol for a systematic review of the literature-A TASK2 report of the AES/ILAE Translational Task Force of the ILAE.Epilepsia. 2017 Nov;58 Suppl 4:68-77. doi: 10.1111/epi.13908.
532 Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5443-8. doi: 10.1073/pnas.1017539108. Epub 2011 Mar 14.
533 Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.Clin Chim Acta. 2019 Jun;493:87-91. doi: 10.1016/j.cca.2019.02.028. Epub 2019 Feb 28.
534 PRRT2 mutation in Japanese children with benign infantile epilepsy.Brain Dev. 2013 Aug;35(7):641-6. doi: 10.1016/j.braindev.2012.09.015. Epub 2012 Nov 3.
535 L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.Hum Mol Genet. 2004 Nov 15;13(22):2803-11. doi: 10.1093/hmg/ddh300. Epub 2004 Sep 22.
536 Expression of laminin beta1 in hippocampi of patients with intractable epilepsy.Neurosci Lett. 2008 Oct 10;443(3):160-4. doi: 10.1016/j.neulet.2008.07.080. Epub 2008 Aug 5.
537 A novel mutation in LAMC3 associated with generalized polymicrogyria of the cortex and epilepsy.Neurogenetics. 2018 Jan;19(1):61-65. doi: 10.1007/s10048-017-0534-4. Epub 2017 Dec 15.
538 Increased expression of L-amino acid transporters in balloon cells of tuberous sclerosis.Childs Nerv Syst. 2011 Jan;27(1):63-70. doi: 10.1007/s00381-010-1239-2. Epub 2010 Aug 3.
539 Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.Cell Mol Life Sci. 2020 Jan;77(2):267-274. doi: 10.1007/s00018-019-03269-0. Epub 2019 Aug 20.
540 Positive association between benign familial infantile convulsions and LGI4.Brain Dev. 2010 Aug;32(7):538-43. doi: 10.1016/j.braindev.2009.09.006. Epub 2009 Oct 7.
541 Homology modeling of Homo sapiens lipoic acid synthase: Substrate docking and insights on its binding mode.J Theor Biol. 2017 May 7;420:259-266. doi: 10.1016/j.jtbi.2016.09.005. Epub 2016 Oct 5.
542 Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13.
543 Effect of synaptic adhesion-like molecule 3 on epileptic seizures: Evidence from animal models.Epilepsy Behav. 2017 Apr;69:18-23. doi: 10.1016/j.yebeh.2016.11.023. Epub 2017 Mar 14.
544 Assessment of psychiatric and behavioral adverse effects of antiepileptic drugs monotherapy: Could they have a neuroendocrine correlation in persons with epilepsy?.Epilepsy Behav. 2019 Nov;100(Pt A):106439. doi: 10.1016/j.yebeh.2019.07.040. Epub 2019 Sep 28.
545 Design, synthesis and biological evaluation of novel ureido benzenesulfonamides incorporating 1,3,5-triazine moieties as potent carbonic anhydrase IX inhibitors.Bioorg Chem. 2019 Feb;82:117-122. doi: 10.1016/j.bioorg.2018.10.005. Epub 2018 Oct 5.
546 Effects of JIP3 on epileptic seizures: Evidence from temporal lobe epilepsy patients, kainic-induced acute seizures and pentylenetetrazole-induced kindled seizures.Neuroscience. 2015 Aug 6;300:314-24. doi: 10.1016/j.neuroscience.2015.05.008. Epub 2015 May 19.
547 FAME 3: a novel form of progressive myoclonus and epilepsy.Neurology. 2007 Apr 24;68(17):1382-9. doi: 10.1212/01.wnl.0000260063.46425.7e.
548 A Pragmatic Test for Detecting Association between a Dichotomous Trait and the Genotypes of Affected Families, Controls and Independent Cases.Front Genet. 2017 May 9;8:49. doi: 10.3389/fgene.2017.00049. eCollection 2017.
549 Decreased expression of thyroid receptor-associated protein 220 in temporal lobe tissue of patients with refractory epilepsy.Biochem Biophys Res Commun. 2006 Oct 6;348(4):1389-97. doi: 10.1016/j.bbrc.2006.08.010. Epub 2006 Aug 10.
550 MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review.Seizure. 2019 Apr;67:86-90. doi: 10.1016/j.seizure.2019.03.015. Epub 2019 Mar 22.
551 Expression pattern of Mical-1 in the temporal neocortex of patients with intractable temporal epilepsy and pilocarpine-induced rat model.Synapse. 2011 Nov;65(11):1213-21. doi: 10.1002/syn.20961. Epub 2011 Jun 17.
552 Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.Hum Genet. 2005 Oct;118(1):76-81. doi: 10.1007/s00439-005-0004-1. Epub 2005 Oct 28.
553 Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.J Invest Dermatol. 2015 Mar;135(3):734-741. doi: 10.1038/jid.2014.440. Epub 2014 Oct 7.
554 MTHFR, MTR, and MTHFD1 gene polymorphisms compared to homocysteine and asymmetric dimethylarginine concentrations and their metabolites in epileptic patients treated with antiepileptic drugs.Seizure. 2011 Sep;20(7):533-40. doi: 10.1016/j.seizure.2011.04.001. Epub 2011 May 4.
555 Stigma, emotional aspects, and psychological symptoms in individuals with epilepsy.Epilepsy Behav. 2019 Apr;93:56-59. doi: 10.1016/j.yebeh.2019.01.040. Epub 2019 Mar 1.
556 Association of Alpha-Soluble NSF Attachment Protein with Epileptic Seizure.J Mol Neurosci. 2015 Nov;57(3):417-25. doi: 10.1007/s12031-015-0596-4. Epub 2015 Jul 9.
557 NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy. Clin Genet. 2016 Feb;89(2):E1-3. doi: 10.1111/cge.12648. Epub 2015 Aug 28.
558 Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.J Child Neurol. 2011 Apr;26(4):476-81. doi: 10.1177/0883073810384615. Epub 2010 Dec 31.
559 Fold prediction and comparative modeling of Bdm1: a probable alpha/beta hydrolase associated with hot water epilepsy.J Mol Model. 2003 Feb;9(1):3-8. doi: 10.1007/s00894-002-0102-0. Epub 2003 Jan 17.
560 Mice with conditional NeuroD1 knockout display reduced aberrant hippocampal neurogenesis but no change in epileptic seizures.Exp Neurol. 2017 Jul;293:190-198. doi: 10.1016/j.expneurol.2017.04.005. Epub 2017 Apr 18.
561 Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate.J Child Neurol. 2008 Feb;23(2):240-2. doi: 10.1177/0883073807309245.
562 Cognitive impairment in early onset epilepsy is associated with reduced left thalamic volume.Epilepsy Behav. 2018 Mar;80:266-271. doi: 10.1016/j.yebeh.2018.01.018.
563 NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy.Eur J Neurol. 2011 Sep;18(9):1197-9. doi: 10.1111/j.1468-1331.2011.03359.x. Epub 2011 Feb 22.
564 Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination.Eur J Neurol. 2020 Feb;27(2):334-342. doi: 10.1111/ene.14082. Epub 2019 Oct 17.
565 Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ER).Hum Mol Genet. 2017 Jun 1;26(11):2042-2052. doi: 10.1093/hmg/ddx094.
566 Neuropeptide FF receptors as novel targets for limbic seizure attenuation.Neuropharmacology. 2015 Aug;95:415-23. doi: 10.1016/j.neuropharm.2015.04.030. Epub 2015 May 9.
567 mTOR signaling pathway genes in focal epilepsies.Prog Brain Res. 2016;226:61-79. doi: 10.1016/bs.pbr.2016.04.013. Epub 2016 Jun 7.
568 Modeling a Neurexin-3 Human Mutation in Mouse Neurons Identifies a Novel Role in the Regulation of Transsynaptic Signaling and Neurotransmitter Release at Excitatory Synapses.J Neurosci. 2019 Nov 13;39(46):9065-9082. doi: 10.1523/JNEUROSCI.1261-19.2019. Epub 2019 Oct 2.
569 ATPase N-ethylmaleimide-sensitive Fusion Protein: A Novel Key Player for Causing Spontaneous Network Excitation in Human Temporal Lobe Epilepsy.Neuroscience. 2018 Feb 10;371:371-383. doi: 10.1016/j.neuroscience.2017.12.013. Epub 2017 Dec 17.
570 6q22.1 microdeletion and susceptibility to pediatric epilepsy.Eur J Hum Genet. 2015 Feb;23(2):173-9. doi: 10.1038/ejhg.2014.75. Epub 2014 May 14.
571 Human and rodent temporal lobe epilepsy is characterized by changes in O-GlcNAc homeostasis that can be reversed to dampen epileptiform activity.Neurobiol Dis. 2019 Apr;124:531-543. doi: 10.1016/j.nbd.2019.01.001. Epub 2019 Jan 6.
572 The potential role of cannabinoids in epilepsy treatment.Expert Rev Neurother. 2017 Nov;17(11):1069-1079. doi: 10.1080/14737175.2017.1373019. Epub 2017 Sep 4.
573 5-HT3 Receptors: A Potential Therapeutic Target for Epilepsy.Curr Neuropharmacol. 2018;16(1):29-36. doi: 10.2174/1570159X15666170508170412.
574 A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12.
575 Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.J Child Neurol. 2018 Jan;33(1):106-113. doi: 10.1177/0883073817740443.
576 Pannexin-1 channels in epilepsy.Neurosci Lett. 2019 Mar 16;695:71-75. doi: 10.1016/j.neulet.2017.09.004. Epub 2017 Sep 5.
577 Expression of pannexin 1 and 2 in cortical lesions from intractable epilepsy patients with focal cortical dysplasia.Oncotarget. 2017 Jan 24;8(4):6883-6895. doi: 10.18632/oncotarget.14317.
578 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.J Hum Genet. 2017 Apr;62(5):525-529. doi: 10.1038/jhg.2016.163. Epub 2017 Jan 12.
579 Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations.Epilepsy Behav. 2016 Jul;60:75-80. doi: 10.1016/j.yebeh.2016.04.009. Epub 2016 May 12.
580 Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J Hum Genet. 2019 Feb;64(2):183-189. doi: 10.1038/s10038-018-0541-9. Epub 2018 Nov 20.
581 Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.Lancet Neurol. 2014 Sep;13(9):893-903. doi: 10.1016/S1474-4422(14)70171-1. Epub 2014 Jul 30.
582 New findings on SNP variants of human protein L-isoaspartyl methyltransferase that affect catalytic activity, thermal stability, and aggregation.PLoS One. 2018 Jun 1;13(6):e0198266. doi: 10.1371/journal.pone.0198266. eCollection 2018.
583 Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.Epilepsy Res. 2015 Oct;116:40-52. doi: 10.1016/j.eplepsyres.2015.07.002. Epub 2015 Jul 8.
584 Dynamic up-regulation of prodynorphin transcription in temporal lobe epilepsy.Hippocampus. 2009 Nov;19(11):1051-4. doi: 10.1002/hipo.20633.
585 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.
586 Cytogenetic damage by melphalan and hyperthermia in patients with an initial epileptic attack.Mutat Res. 1992 Aug;280(2):143-8. doi: 10.1016/0165-1218(92)90010-w.
587 TDAG51 in the anterior temporal neocortex of patients with intractable epilepsy.Neurosci Lett. 2007 Sep 20;425(1):53-8. doi: 10.1016/j.neulet.2007.08.016. Epub 2007 Aug 15.
588 Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet. 2002 Apr;30(4):441-5. doi: 10.1038/ng862. Epub 2002 Mar 11.
589 Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.Neurology. 2014 Sep 9;83(11):1018-21. doi: 10.1212/WNL.0000000000000781. Epub 2014 Aug 1.
590 PICK1 facilitates lasting reduction in GluA2 concentration in the hippocampus during chronic epilepsy.Epilepsy Res. 2017 Nov;137:25-32. doi: 10.1016/j.eplepsyres.2017.08.012. Epub 2017 Aug 31.
591 A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. Hum Mutat. 2018 Jun;39(6):822-826. doi: 10.1002/humu.23420. Epub 2018 Mar 30.
592 Targeted therapy for inherited GPI deficiency.N Engl J Med. 2007 Apr 19;356(16):1641-7. doi: 10.1056/NEJMoa063369.
593 Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.BMC Med Genet. 2017 Nov 2;18(1):124. doi: 10.1186/s12881-017-0481-9.
594 PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.Am J Med Genet A. 2019 Jul;179(7):1270-1275. doi: 10.1002/ajmg.a.61185. Epub 2019 May 30.
595 PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics. Genet Med. 2019 Oct;21(10):2216-2223. doi: 10.1038/s41436-019-0512-3. Epub 2019 Apr 12.
596 Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants.Pediatr Neurol. 2018 Aug;85:67-70. doi: 10.1016/j.pediatrneurol.2018.05.010. Epub 2018 Jun 5.
597 Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.Nat Neurosci. 2018 Feb;21(2):207-217. doi: 10.1038/s41593-017-0053-5. Epub 2018 Jan 8.
598 The P(II)-NAGK-PipX-NtcA Regulatory Axis of Cyanobacteria: A Tale of Changing Partners, Allosteric Effectors and Non-covalent Interactions.Front Mol Biosci. 2018 Nov 13;5:91. doi: 10.3389/fmolb.2018.00091. eCollection 2018.
599 PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.Brain. 2019 Mar 1;142(3):542-559. doi: 10.1093/brain/awy346.
600 POGZ-related epilepsy: Case report and review of the literature. Am J Med Genet A. 2019 Aug;179(8):1631-1636. doi: 10.1002/ajmg.a.61206. Epub 2019 May 28.
601 Specific OCT1 and ABCG2 polymorphisms are associated with Lamotrigine concentrations in Chinese patients with epilepsy. Epilepsy Res. 2016 Nov;127:186-190.
602 Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications.BMC Neurol. 2018 Sep 20;18(1):150. doi: 10.1186/s12883-018-1157-6.
603 Vangl2 interaction plays a role in the proteasomal degradation of Prickle2.Sci Rep. 2019 Feb 27;9(1):2912. doi: 10.1038/s41598-019-39642-z.
604 C2-lacking isoform of Nedd4-2 regulates excitatory synaptic strength through GluA1 ubiquitination-independent mechanisms.J Neurochem. 2019 Nov;151(3):289-300. doi: 10.1111/jnc.14840. Epub 2019 Aug 25.
605 Valproic acid, a molecular lead to multiple regulatory pathways.Folia Biol (Praha). 2007;53(2):37-49.
606 A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.Hum Mol Genet. 2014 Jan 1;23(1):247-58. doi: 10.1093/hmg/ddt403. Epub 2013 Aug 19.
607 Pumilio2-deficient mice show a predisposition for epilepsy.Dis Model Mech. 2017 Nov 1;10(11):1333-1342. doi: 10.1242/dmm.029678. Epub 2017 Oct 18.
608 The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.Nat Commun. 2015 Mar 18;6:6504. doi: 10.1038/ncomms7504.
609 Intronic (TTTGA)(n) insertion in SAMD12 also causes familial cortical myoclonic tremor with epilepsy.Mov Disord. 2019 Oct;34(10):1571-1576. doi: 10.1002/mds.27832. Epub 2019 Sep 4.
610 RASgrf1, a Potential Methylatic Mediator of Anti-epileptogenesis?.Neurochem Res. 2018 Oct;43(10):2000-2007. doi: 10.1007/s11064-018-2621-9. Epub 2018 Sep 21.
611 RBFOX1 and RBFOX3 mutations in rolandic epilepsy.PLoS One. 2013 Sep 6;8(9):e73323. doi: 10.1371/journal.pone.0073323. eCollection 2013.
612 HMGB1 mediates microglia activation via the TLR4/NF-B pathway in coriaria lactone induced epilepsy.Mol Med Rep. 2018 Apr;17(4):5125-5131. doi: 10.3892/mmr.2018.8485. Epub 2018 Jan 25.
613 Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Ann Clin Transl Neurol. 2019 Mar 7;6(4):807-811. doi: 10.1002/acn3.727. eCollection 2019 Apr.
614 Video polysomnographic findings in non-rapid eye movement parasomnia.J Sleep Res. 2019 Apr;28(2):e12772. doi: 10.1111/jsr.12772. Epub 2018 Oct 8.
615 REST/NRSF transcription factor is overexpressed in hippocampus of patients with drug-resistant mesial temporal lobe epilepsy.Epilepsy Behav. 2019 May;94:118-123. doi: 10.1016/j.yebeh.2019.02.012. Epub 2019 Mar 21.
616 Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.Am J Hum Genet. 2018 Jan 4;102(1):44-57. doi: 10.1016/j.ajhg.2017.11.008. Epub 2017 Dec 21.
617 Ectopic expression of Miro 1 ameliorates seizures and inhibits hippocampal neurodegeneration in a mouse model of pilocarpine epilepsy.Biochem Cell Biol. 2018 Aug;96(4):468-474. doi: 10.1139/bcb-2017-0102. Epub 2018 Jan 24.
618 Tau Related Pathways as a Connecting Link between Epilepsy and Alzheimer's Disease.ACS Chem Neurosci. 2019 Oct 16;10(10):4199-4212. doi: 10.1021/acschemneuro.9b00460. Epub 2019 Sep 30.
619 RNaseT2 knockout rats exhibit hippocampal neuropathology and deficits in memory.Dis Model Mech. 2018 Jun 27;11(6):dmm032631. doi: 10.1242/dmm.032631.
620 A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.Eur J Med Genet. 2018 Feb;61(2):89-93. doi: 10.1016/j.ejmg.2017.10.011. Epub 2017 Oct 21.
621 Neural activity in the periaqueductal gray and other specific subcortical structures is enhanced when a selective serotonin reuptake inhibitor selectively prevents seizure-induced sudden death in the DBA/1 mouse model of sudden unexpected death in epilepsy.Epilepsia. 2019 Jun;60(6):1221-1233. doi: 10.1111/epi.14759. Epub 2019 May 6.
622 Unnatural verticilide enantiomer inhibits type 2 ryanodine receptor-mediated calcium leak and is antiarrhythmic.Proc Natl Acad Sci U S A. 2019 Mar 12;116(11):4810-4815. doi: 10.1073/pnas.1816685116. Epub 2019 Feb 21.
623 Mutations in SCN3A cause early infantile epileptic encephalopathy. Ann Neurol. 2018 Apr;83(4):703-717. doi: 10.1002/ana.25188. Epub 2018 Mar 30.
624 Identification of novel gene and pathway targets for human epilepsy treatment.Biol Res. 2016 Jan 7;49:3. doi: 10.1186/s40659-015-0060-5.
625 Induction of sodium channel Na(x) (SCN7A) expression in rat and human hippocampus in temporal lobe epilepsy.Epilepsia. 2010 Sep;51(9):1791-800. doi: 10.1111/j.1528-1167.2010.02678.x. Epub 2010 Aug 5.
626 Elevated Expression of the Delta-Subunit of Epithelial Sodium Channel in Temporal Lobe Epilepsy Patients and Rat Model.J Mol Neurosci. 2015 Dec;57(4):510-8. doi: 10.1007/s12031-015-0630-6. Epub 2015 Aug 1.
627 Sema7A, a brain immune regulator, regulates seizure activity in PTZ-kindled epileptic rats.CNS Neurosci Ther. 2020 Jan;26(1):101-116. doi: 10.1111/cns.13181. Epub 2019 Jun 9.
628 De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.Neurosci Bull. 2019 Dec;35(6):1045-1057. doi: 10.1007/s12264-019-00400-w. Epub 2019 Jun 13.
629 Febrile seizures are associated with mutation of seizure-related (SEZ) 6, a brain-specific gene.J Neurosci Res. 2007 Jan;85(1):166-72. doi: 10.1002/jnr.21103.
630 Endophilin A1 mediates seizure activity via regulation of AMPARs in a PTZ-kindled epileptic mouse model.Exp Neurol. 2018 Jun;304:41-57. doi: 10.1016/j.expneurol.2018.02.014. Epub 2018 Feb 24.
631 Congenital bilateral perisylvian syndrome: familial occurrence, clinical and psycholinguistic aspects correlated with MRI.Neuropediatrics. 2008 Jun;39(3):139-45. doi: 10.1055/s-0028-1085462. Epub 2008 Nov 7.
632 A high frequency of the MTHFR 677C>T polymorphism in Scottish women with epilepsy: possible role in pathogenesis.Seizure. 2008 Apr;17(3):269-75. doi: 10.1016/j.seizure.2007.08.003. Epub 2007 Sep 27.
633 Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.J Hum Genet. 2011 Aug;56(8):561-5. doi: 10.1038/jhg.2011.58. Epub 2011 Jun 2.
634 Resting-state functional connectivity changes due to acute and short-term valproic acid administration in the baboon model of GGE.Neuroimage Clin. 2017 Jul 24;16:132-141. doi: 10.1016/j.nicl.2017.07.013. eCollection 2017.
635 Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.Clin Genet. 2019 Feb;95(2):221-230. doi: 10.1111/cge.13153. Epub 2018 Jan 25.
636 SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.J Cell Mol Med. 2018 Mar;22(3):1883-1893. doi: 10.1111/jcmm.13473. Epub 2018 Jan 24.
637 Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.Gene. 2019 Jul 20;706:162-171. doi: 10.1016/j.gene.2019.05.007. Epub 2019 May 11.
638 Expression pattern of sorting Nexin 25 in temporal lobe epilepsy: a study on patients and pilocarpine-induced rats.Brain Res. 2013 May 6;1509:79-85. doi: 10.1016/j.brainres.2013.03.005. Epub 2013 Mar 18.
639 SorCS2 Controls Functional Expression of Amino Acid Transporter EAAT3 and Protects Neurons from Oxidative Stress and Epilepsy-Induced Pathology.Cell Rep. 2019 Mar 5;26(10):2792-2804.e6. doi: 10.1016/j.celrep.2019.02.027.
640 The extracellular matrix protein SC1/hevin localizes to excitatory synapses following status epilepticus in the rat lithium-pilocarpine seizure model.J Neurosci Res. 2008 Oct;86(13):2895-905. doi: 10.1002/jnr.21735.
641 Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy.Am J Med Genet A. 2003 Mar 1;117A(2):116-21. doi: 10.1002/ajmg.a.10141.
642 Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.
643 Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders.Front Mol Neurosci. 2017 Jun 30;10:212. doi: 10.3389/fnmol.2017.00212. eCollection 2017.
644 Epilepsy Associates with Decreased HIF-1/STAT5b Signaling in Glioblastoma.Cancers (Basel). 2019 Jan 4;11(1):41. doi: 10.3390/cancers11010041.
645 Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?.Gene. 2019 Feb 15;685:50-54. doi: 10.1016/j.gene.2018.10.067. Epub 2018 Oct 25.
646 Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.Am J Med Genet A. 2014 Mar;164A(3):782-8. doi: 10.1002/ajmg.a.36345. Epub 2013 Dec 19.
647 Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. Mol Genet Metab. 2017 Aug;121(4):297-307. doi: 10.1016/j.ymgme.2017.06.014. Epub 2017 Jun 30.
648 Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy.Neurosci Lett. 2015 Mar 30;591:149-154. doi: 10.1016/j.neulet.2015.02.009. Epub 2015 Feb 7.
649 No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.Epilepsy Res. 2009 Jan;83(1):44-51. doi: 10.1016/j.eplepsyres.2008.09.003. Epub 2008 Oct 31.
650 SYNGAP1 mutations: Clinical, genetic, and pathophysiological features.Int J Dev Neurosci. 2019 Nov;78:65-76. doi: 10.1016/j.ijdevneu.2019.08.003. Epub 2019 Aug 24.
651 Pilocarpine-Induced Status Epilepticus Is Associated with Changes in the Actin-Modulating Protein Synaptopodin and Alterations in Long-Term Potentiation in the Mouse Hippocampus.Neural Plast. 2017;2017:2652560. doi: 10.1155/2017/2652560. Epub 2017 Jan 5.
652 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat. 2014 Aug;35(8):983-9. doi: 10.1002/humu.22590. Epub 2014 Jun 24.
653 TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11.
654 Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.Ann Neurol. 2018 Jan;83(1):153-165. doi: 10.1002/ana.25130.
655 Correlation between TSC1 gene polymorphism and epilepsy.Exp Ther Med. 2017 Dec;14(6):6238-6242. doi: 10.3892/etm.2017.5345. Epub 2017 Oct 19.
656 TIGAR suppresses seizures induced by kainic acid through inhibiting oxidative stress and neuronal apoptosis.Biochem Biophys Res Commun. 2019 Jul 30;515(3):436-441. doi: 10.1016/j.bbrc.2019.05.156. Epub 2019 May 31.
657 Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clin Genet. 2017 May;91(5):690-696. doi: 10.1111/cge.12855. Epub 2016 Oct 12.
658 Characterization of focal cortical dysplasia with balloon cells by layer-specific markers: Evidence for differential vulnerability of interneurons.Epilepsia. 2017 Apr;58(4):635-645. doi: 10.1111/epi.13690. Epub 2017 Feb 16.
659 A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18.
660 TMEM25 modulates neuronal excitability and NMDA receptor subunit NR2B degradation.J Clin Invest. 2019 Sep 3;129(9):3864-3876. doi: 10.1172/JCI122599.
661 Association of TRAF1/C5 Locus Polymorphisms with Epilepsy and Clinical Traits in Mexican Patients with Neurocysticercosis.Infect Immun. 2019 Nov 18;87(12):e00347-19. doi: 10.1128/IAI.00347-19. Print 2019 Dec.
662 Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3.Hum Mol Genet. 1995 Apr;4(4):709-16. doi: 10.1093/hmg/4.4.709.
663 Inhibition of TRIB3 Protects Against Neurotoxic Injury Induced by Kainic Acid in Rats.Front Pharmacol. 2019 May 22;10:585. doi: 10.3389/fphar.2019.00585. eCollection 2019.
664 tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.Diabet Med. 2016 Sep;33(9):e21-5. doi: 10.1111/dme.13024.
665 Fine mapping of a susceptibility locus for bipolar and genetically related unipolar affective disorders, to a region containing the C21ORF29 and TRPM2 genes on chromosome 21q22.3.Mol Psychiatry. 2006 Feb;11(2):134-42. doi: 10.1038/sj.mp.4001759.
666 Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22.Nat Commun. 2018 Apr 18;9(1):1546. doi: 10.1038/s41467-018-03947-w.
667 ADAM23 is a common risk gene for canine idiopathic epilepsy.BMC Genet. 2017 Jan 31;18(1):8. doi: 10.1186/s12863-017-0478-6.
668 Bilateral frontoparietal polymicrogyria: a novel GPR56 mutation and an unusual phenotype.Neuropediatrics. 2015 Apr;46(2):134-8. doi: 10.1055/s-0034-1399754. Epub 2015 Feb 2.
669 Corrigendum: A Novel RNA Editing Sensor Tool and a Specific Agonist Determine Neuronal Protein Expression of RNA-Edited Glycine Receptors and Identify a Genomic APOBEC1 Dimorphism as a New Genetic Risk Factor of Epilepsy.Front Mol Neurosci. 2019 Apr 24;12:103. doi: 10.3389/fnmol.2019.00103. eCollection 2019.
670 The Functional Communication Classification System: extended reliability and concurrent validity for children with cerebral palsy aged 5 to 18 years.Dev Med Child Neurol. 2019 Jul;61(7):805-812. doi: 10.1111/dmcn.14135. Epub 2019 Jan 6.
671 CHD2-related epilepsy: novel mutations and new phenotypes.Dev Med Child Neurol. 2020 May;62(5):647-653. doi: 10.1111/dmcn.14367. Epub 2019 Nov 1.
672 Altered circadian rhythms and oscillation of clock genes and sirtuin 1 in a model of sudden unexpected death in epilepsy.Epilepsia. 2018 Aug;59(8):1527-1539. doi: 10.1111/epi.14513. Epub 2018 Jul 15.
673 A de novo variant in the X-linked gene CNKSR2 is associated with seizures and mild intellectual disability in a female patient.Mol Genet Genomic Med. 2019 Oct;7(10):e00861. doi: 10.1002/mgg3.861. Epub 2019 Aug 15.
674 Randomized Placebo-Controlled Trial of Intravenous Immunoglobulin in Autoimmune LGI1/CASPR2 Epilepsy.Ann Neurol. 2020 Feb;87(2):313-323. doi: 10.1002/ana.25655. Epub 2019 Dec 14.
675 Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.J Hum Genet. 2019 Oct;64(10):1005-1014. doi: 10.1038/s10038-019-0641-1. Epub 2019 Jul 16.
676 Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?.Epilepsy Res. 2016 Dec;128:48-51. doi: 10.1016/j.eplepsyres.2016.10.008. Epub 2016 Oct 25.
677 Loss of fragile X protein FMRP impairs homeostatic synaptic downscaling through tumor suppressor p53 and ubiquitin E3 ligase Nedd4-2.Hum Mol Genet. 2018 Aug 15;27(16):2805-2816. doi: 10.1093/hmg/ddy189.
678 Ferric Chelate Reductase 1 Like Protein (FRRS1L) Associates with Dynein Vesicles and Regulates Glutamatergic Synaptic Transmission.Front Mol Neurosci. 2017 Dec 8;10:402. doi: 10.3389/fnmol.2017.00402. eCollection 2017.
679 GABRG2, rs211037 is associated with epilepsy susceptibility, but not with antiepileptic drug resistance and febrile seizures.Pharmacogenet Genomics. 2013 Nov;23(11):605-10. doi: 10.1097/FPC.0000000000000000.
680 Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.Am J Hum Genet. 2016 Dec 1;99(6):1261-1280. doi: 10.1016/j.ajhg.2016.10.002. Epub 2016 Nov 10.
681 Loss of the potassium channel beta-subunit gene, KCNAB2, is associated with epilepsy in patients with 1p36 deletion syndrome.Epilepsia. 2001 Sep;42(9):1103-11. doi: 10.1046/j.1528-1157.2001.08801.x.
682 Obstructive sleep apnea in refractory epilepsy: A pilot study investigating frequency, clinical features, and association with risk of sudden unexpected death in epilepsy.Epilepsia. 2018 Oct;59(10):1973-1981. doi: 10.1111/epi.14548. Epub 2018 Sep 24.
683 Comparative Effectiveness of Levetiracetam vs Phenobarbital for Infantile Epilepsy.JAMA Pediatr. 2018 Apr 1;172(4):352-360. doi: 10.1001/jamapediatrics.2017.5211.
684 Antagonizing Increased miR-135a Levels at the Chronic Stage of Experimental TLE Reduces Spontaneous Recurrent Seizures.J Neurosci. 2019 Jun 26;39(26):5064-5079. doi: 10.1523/JNEUROSCI.3014-18.2019. Epub 2019 Apr 23.
685 Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy.Pediatr Neurol. 2018 Dec;89:26-30. doi: 10.1016/j.pediatrneurol.2018.07.014. Epub 2018 Aug 4.
686 Derivation of familial iPSC lines from three ASD patients carrying NRXN1(+/-) and two controls (NUIGi022-A, NUIGi022-B; NUIGi023-A, NUIGi023-B; NUIGi025-A, NUIGi025-B; NUIGi024-A, NUIGi024-B; NUIGi026-A, NUIGi026-B).Stem Cell Res. 2019 Dec;41:101653. doi: 10.1016/j.scr.2019.101653. Epub 2019 Nov 13.
687 Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome.Epilepsy Behav. 2017 Apr;69:104-109. doi: 10.1016/j.yebeh.2017.01.022. Epub 2017 Feb 23.
688 A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins.Brain Dev. 2018 Aug;40(7):596-600. doi: 10.1016/j.braindev.2018.02.009. Epub 2018 Mar 2.
689 Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.Epilepsia. 2018 Nov;59(11):2125-2136. doi: 10.1111/epi.14568. Epub 2018 Sep 26.
690 Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.Hum Genet. 2014 May;133(5):651-9. doi: 10.1007/s00439-013-1405-1. Epub 2013 Dec 13.
691 Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3.
692 Epilepsy and intellectual disability linked protein Shrm4 interaction with GABA(B)Rs shapes inhibitory neurotransmission.Nat Commun. 2017 Mar 6;8:14536. doi: 10.1038/ncomms14536.
693 Cannabidiol reduces seizures and associated behavioral comorbidities in a range of animal seizure and epilepsy models.Epilepsia. 2019 Feb;60(2):303-314. doi: 10.1111/epi.14629. Epub 2018 Dec 26.
694 Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.Am J Med Genet A. 2018 Dec;176(12):2768-2776. doi: 10.1002/ajmg.a.40628. Epub 2018 Dec 11.
695 Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk.Epilepsia. 2018 Jul;59(7):1372-1380. doi: 10.1111/epi.14438. Epub 2018 Jun 6.
696 Synergistic association of STX1A and VAMP2 with cryptogenic epilepsy in North Indian population.Brain Behav. 2016 Jun 14;6(7):e00490. doi: 10.1002/brb3.490. eCollection 2016 Jul.
697 Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.J Inherit Metab Dis. 2016 Mar;39(2):243-52. doi: 10.1007/s10545-015-9894-9. Epub 2015 Oct 16.
698 A Novel SYNJ1 Mutation in a Tunisian Family with Juvenile Parkinson's Disease Associated with Epilepsy.J Mol Neurosci. 2018 Oct;66(2):273-278. doi: 10.1007/s12031-018-1167-2. Epub 2018 Sep 5.
699 Disruption of the GluA2/GAPDH complex using TAT-GluA2NT1-3-2 peptide protects against AMPAR-mediated excitotoxicity after epilepsy.Neuroreport. 2018 Mar 21;29(5):432-439. doi: 10.1097/WNR.0000000000000996.
700 LAM study: Effects of lacosamide on behaviour and quality of life in patients with epilepsy.Neurologia (Engl Ed). 2019 Jan-Feb;34(1):1-6. doi: 10.1016/j.nrl.2016.10.007. Epub 2016 Dec 16.