Details of Disease

General Information of Disease (ID: DISJPOUD)

Disease Name Absence epilepsy
Disease Hierarchy
:
DISJPOUD: Absence epilepsy
Disease Identifiers
MONDO ID
MONDO_0850093
MESH ID
D004832
UMLS CUI
C0014553
MedGen ID
4989
SNOMED CT ID
79631006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 7 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Acetazolamide DM1AF5U Approved Small molecular drug [1]
Clonazepam DMTO13J Approved Small molecular drug [2]
Lorazepam DM84ZXF Approved Small molecular drug [3]
Methsuximide DM6L5VO Approved Small molecular drug [4]
Paramethadione DMR5ZUP Approved Small molecular drug [5]
Phensuximide DMFGLXB Approved Small molecular drug [6]
Trimethadione DM0Q8MZ Approved Small molecular drug [7]
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⏷ Show the Full List of 7 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 [8]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 28 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GABRD TTGXH6N Limited Biomarker [9]
GRM4 TTICZ1O Limited Genetic Variation [10]
KCNQ3 TTIVDM3 Limited Biomarker [11]
SLC6A1 TTPRKM0 Limited Genetic Variation [12]
SLC2A1 TT79TKF Disputed Genetic Variation [13]
GABRA1 TT1MPAY moderate Genetic Variation [14]
RORB TTGB2LZ moderate Genetic Variation [15]
CACNA1A TTX4QDJ Strong Biomarker [16]
CACNA1H TTZPWGN Strong Biomarker [16]
CACNA1I TTQZFTH Strong Biomarker [17]
CACNA2D2 TTU8P3M Strong Biomarker [18]
CHRNA7 TTLA931 Strong Genetic Variation [19]
CLCN2 TT30NW6 Strong Genetic Variation [20]
GABRA5 TTNZPQ1 Strong Biomarker [21]
GABRG2 TT06RH5 Strong Genetic Variation [22]
GJA8 TTJ7ATH Strong Biomarker [23]
GRIA2 TTWM461 Strong Genetic Variation [24]
GRIA4 TTPJR0G Strong Biomarker [25]
HCN1 TTNB6UQ Strong Biomarker [26]
HTR7 TTO9X1H Strong Biomarker [27]
KCNJ10 TTG140O Strong Biomarker [28]
KCNK9 TTL4FMB Strong Genetic Variation [29]
NPY TT64REZ Strong Biomarker [30]
NPY1R TTRK9JT Strong Therapeutic [31]
NPY2R TTJ6WK9 Strong Therapeutic [31]
NPY5R TTY6EWA Strong Therapeutic [31]
SCN8A TT54ERL Strong Genetic Variation [32]
UBE3A TTUZX6V Strong Biomarker [33]
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⏷ Show the Full List of 28 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
CACNG3 DTVFLQD Limited Biomarker [34]
CACNG2 DTRL7OG Strong Biomarker [35]
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This Disease Is Related to 20 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GABRA6 OTX4UC3O Limited Genetic Variation [36]
LGI4 OTZGS8BN Limited Genetic Variation [37]
NIPA2 OT4NEBNO Limited Genetic Variation [38]
NLE1 OT1BV82K Limited Altered Expression [39]
TCOF1 OT4BOYTM Limited Biomarker [40]
TRAK1 OTMQVYNP Limited Altered Expression [41]
JRK OTO8E77P moderate Biomarker [42]
PVALB OTZW1WVQ moderate Biomarker [43]
BRAT1 OT5ABVYX Strong Genetic Variation [44]
CANX OTYP1F6J Strong Biomarker [45]
CAV3 OTWSFDB4 Strong Biomarker [46]
CLN8 OT0D4CB5 Strong Biomarker [47]
EFHC1 OTS9IBNE Strong Genetic Variation [48]
GLUD1 OTXKOCUH Strong Biomarker [49]
PCNX2 OT90S9W6 Strong Biomarker [25]
PIGO OTGDOBO1 Strong Biomarker [50]
PLCB4 OTPA0QHW Strong Biomarker [51]
RCN2 OTIU8JWD Strong Biomarker [52]
SMC1A OT9ZMRK9 Strong Genetic Variation [53]
SCN1B OTGD78J3 Definitive Genetic Variation [54]
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⏷ Show the Full List of 20 DOT(s)

References

1 Acetazolamide FDA Label
2 Clonazepam FDA Label
3 Lorazepam FDA Label
4 Methsuximide FDA Label
5 Paramethadione FDA Label
6 Phensuximide FDA Label
7 Trimethadione FDA Label
8 Valproic Acid FDA Label
9 Mutations in GABAA receptor subunits associated with genetic epilepsies.J Physiol. 2010 Jun 1;588(Pt 11):1861-9. doi: 10.1113/jphysiol.2010.186999. Epub 2010 Mar 22.
10 Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis.Epilepsy Res. 2010 May;89(2-3):319-26. doi: 10.1016/j.eplepsyres.2010.02.004. Epub 2010 Mar 24.
11 Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.Am J Hum Genet. 1999 Sep;65(3):745-51. doi: 10.1086/302535.
12 SLC6A1 variants identified in epilepsy patients reduce -aminobutyric acid transport.Epilepsia. 2018 Sep;59(9):e135-e141. doi: 10.1111/epi.14531. Epub 2018 Aug 21.
13 The glucose transporter type 1 (Glut1) syndromes.Epilepsy Behav. 2019 Feb;91:90-93. doi: 10.1016/j.yebeh.2018.06.010. Epub 2018 Jul 31.
14 A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy. Ann Neurol. 2006 Jun;59(6):983-7. doi: 10.1002/ana.20874.
15 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.
16 Adult loss of Cacna1a in mice recapitulates childhood absence epilepsy by distinct thalamic bursting mechanisms.Brain. 2020 Jan 1;143(1):161-174. doi: 10.1093/brain/awz365.
17 Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.Ann Neurol. 2017 Mar;81(3):444-453. doi: 10.1002/ana.24886.
18 Familial form of typical childhood absence epilepsy in a consanguineous context.Epilepsia. 2010 Sep;51(9):1889-93. doi: 10.1111/j.1528-1167.2010.02649.x.
19 Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14.Am J Med Genet. 1999 Apr 16;88(2):182-7.
20 De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.Epilepsy Res. 2019 Aug;154:55-61. doi: 10.1016/j.eplepsyres.2019.04.005. Epub 2019 Apr 22.
21 Case-control study and transmission/disequilibrium tests of the genes encoding GABRA5 and GABRB3 in a Chinese population affected by childhood absence epilepsy.Chin Med J (Engl). 2004 Oct;117(10):1497-501.
22 Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae.Dis Model Mech. 2019 Nov 11;12(11):dmm040782. doi: 10.1242/dmm.040782.
23 The cognitive phenotype of idiopathic generalized epilepsy.Epilepsy Behav. 2018 Dec;89:99-104. doi: 10.1016/j.yebeh.2018.10.007. Epub 2018 Nov 6.
24 Elevated sterol regulatory elementary binding protein 1 and GluA2 levels in the hippocampal nuclear fraction of Genetic Absence Epilepsy Rats from Strasbourg.Epilepsy Res. 2017 Oct;136:1-4. doi: 10.1016/j.eplepsyres.2017.07.004. Epub 2017 Jul 12.
25 Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy.PLoS Genet. 2014 Jul 10;10(7):e1004454. doi: 10.1371/journal.pgen.1004454. eCollection 2014 Jul.
26 Muscle weakness and impaired motor coordination in hyperpolarization-activated cyclic nucleotide-gated potassium channel 1-deficient rats.Exp Anim. 2020 Jan 29;69(1):11-17. doi: 10.1538/expanim.19-0067. Epub 2019 Jul 9.
27 Selective 5-HT1A and 5-HT7 antagonists decrease epileptic activity in the WAG/Rij rat model of absence epilepsy.Neurosci Lett. 2004 Apr 8;359(1-2):45-8. doi: 10.1016/j.neulet.2004.01.072.
28 Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats.Trends Genet. 2009 Aug;25(8):361-7. doi: 10.1016/j.tig.2009.07.001. Epub 2009 Aug 6.
29 A TASK3 channel (KCNK9) mutation in a genetic model of absence epilepsy.J Mol Neurosci. 2005;25(1):37-51. doi: 10.1385/JMN:25:1:037.
30 Gene therapy mediated seizure suppression in Genetic Generalised Epilepsy: Neuropeptide Y overexpression in a rat model.Neurobiol Dis. 2018 May;113:23-32. doi: 10.1016/j.nbd.2018.01.016. Epub 2018 Feb 4.
31 Neuropeptide Y suppresses absence seizures in a genetic rat model primarily through effects on Y receptors.Eur J Neurosci. 2007 Feb;25(4):1136-43. doi: 10.1111/j.1460-9568.2007.05348.x.
32 Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy.Epilepsy Res. 2015 Sep;115:141-4. doi: 10.1016/j.eplepsyres.2015.06.007. Epub 2015 Jun 15.
33 Episodic tremors representing cortical myoclonus are characteristic in Angelman syndrome due to UBE3A mutations.Brain Dev. 2015 Feb;37(2):216-22. doi: 10.1016/j.braindev.2014.04.005. Epub 2014 May 3.
34 Linkage and association analysis of CACNG3 in childhood absence epilepsy.Eur J Hum Genet. 2007 Apr;15(4):463-72. doi: 10.1038/sj.ejhg.5201783. Epub 2007 Jan 31.
35 Genetic absence epilepsy rats from Strasbourg have increased corticothalamic expression of stargazin.Neurobiol Dis. 2008 Aug;31(2):261-5. doi: 10.1016/j.nbd.2008.04.012. Epub 2008 May 10.
36 The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 622 and 62 GABA(A) receptor channel gating and expression.J Physiol. 2011 Dec 1;589(Pt 23):5857-78. doi: 10.1113/jphysiol.2011.218883. Epub 2011 Sep 19.
37 Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy.Neurogenetics. 2004 Feb;5(1):41-4. doi: 10.1007/s10048-003-0158-8. Epub 2003 Sep 19.
38 The absence of NIPA2 enhances neural excitability through BK (big potassium) channels.CNS Neurosci Ther. 2019 Aug;25(8):865-875. doi: 10.1111/cns.13119. Epub 2019 Mar 20.
39 Developmental changes in Notch1 and NLE1 expression in a genetic model of absence epilepsy.Brain Struct Funct. 2017 Aug;222(6):2773-2785. doi: 10.1007/s00429-017-1371-9. Epub 2017 Feb 16.
40 Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.Epilepsia. 2004 May;45(5):467-78. doi: 10.1111/j.0013-9580.2004.46803.x.
41 Hypertonia-linked protein Trak1 functions with mitofusins to promote mitochondrial tethering and fusion.Protein Cell. 2018 Aug;9(8):693-716. doi: 10.1007/s13238-017-0469-4. Epub 2017 Sep 18.
42 Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME.Epilepsy Res. 2001 Aug;46(2):157-67. doi: 10.1016/s0920-1211(01)00275-3.
43 Sensory coding is impaired in rat absence epilepsy.J Physiol. 2019 Feb;597(3):951-966. doi: 10.1113/JP277297. Epub 2019 Jan 4.
44 BRAT1-related disease--identification of a patient without early lethality.Am J Med Genet A. 2016 Mar;170(3):699-702. doi: 10.1002/ajmg.a.37434. Epub 2015 Oct 22.
45 The Cacna1h mutation in the GAERS model of absence epilepsy enhances T-type Ca(2+) currents by altering calnexin-dependent trafficking of Ca(v)3.2 channels.Sci Rep. 2017 Sep 14;7(1):11513. doi: 10.1038/s41598-017-11591-5.
46 Cdk5-Dependent Phosphorylation of Ca(V)3.2 T-Type Channels: Possible Role in Nerve Ligation-Induced Neuropathic Allodynia and the Compound Action Potential in Primary Afferent C Fibers.J Neurosci. 2020 Jan 8;40(2):283-296. doi: 10.1523/JNEUROSCI.0181-19.2019. Epub 2019 Nov 19.
47 Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.Epilepsy Behav. 2007 Feb;10(1):187-91. doi: 10.1016/j.yebeh.2006.10.009. Epub 2006 Nov 28.
48 Progress in mapping human epilepsy genes.Epilepsia. 1994;35 Suppl 1:S29-40. doi: 10.1111/j.1528-1157.1994.tb05926.x.
49 Specific alteration in the expression of glial fibrillary acidic protein, glutamate dehydrogenase, and glutamine synthetase in rats with genetic absence epilepsy.Glia. 2000 Oct;32(1):15-24. doi: 10.1002/1098-1136(200010)32:1<15::aid-glia20>3.0.co;2-#.
50 Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008.
51 Distinct Topographical Patterns of Spike-Wave Discharge in Transgenic and Pharmacologically Induced Absence Seizure Models.Exp Neurobiol. 2019 Aug 31;28(4):474-484. doi: 10.5607/en.2019.28.4.474.
52 Gene expression analysis in absence epilepsy using a monozygotic twin design.Epilepsia. 2008 Sep;49(9):1546-54. doi: 10.1111/j.1528-1167.2008.01630.x. Epub 2008 Apr 24.
53 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.Clin Genet. 2016 Nov;90(5):413-419. doi: 10.1111/cge.12729. Epub 2016 Feb 14.
54 A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. Neurology. 2003 Sep 23;61(6):854-6. doi: 10.1212/01.wnl.0000080362.55784.1c.