Details of Disease

Disease Name

Epilepsy syndrome

syndromic epilepsy; epileptic syndrome

Disease Hierarchy

DISBB28L: Epilepsy

DISLYXJ3: Epilepsy syndrome

Disease Identifiers

MONDO ID

MONDO_0015650

MESH ID

D000073376

UMLS CUI

C4505072

MedGen ID

1371141

Orphanet ID

166463

General Information of Disease (ID: DISLYXJ3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 13 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GABRG2	TT06RH5	Limited	Genetic Variation	[1]
GABRA1	TT1MPAY	Disputed	Genetic Variation	[2]
GABRD	TTGXH6N	Disputed	Biomarker	[3]
KCNQ2	TTPXI3S	Disputed	Genetic Variation	[4]
CACNA1H	TTZPWGN	Strong	Biomarker	[5]
GRIN2A	TTKJEMQ	Strong	Genetic Variation	[6]
KCNQ3	TTIVDM3	Strong	Altered Expression	[7]
PLCB1	TTLPGU7	Strong	Biomarker	[8]
SCN1A	TTANOZH	Strong	Genetic Variation	[9]
SCN2A	TTLJTUF	Strong	Genetic Variation	[10]
SCN3A	TTAXZ0K	Strong	Biomarker	[11]
SLC12A5	TTH6UZY	Strong	Genetic Variation	[12]
SCN8A	TT54ERL	Definitive	Biomarker	[11]
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⏷ Show the Full List of 13 DTT(s)

This Disease Is Related to 12 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PCDH19	OTSOW3MV	Limited	Genetic Variation	[13]
CNTNAP2	OT48T2ZP	Disputed	Biomarker	[14]
STXBP1	OTRYA8C3	moderate	Genetic Variation	[4]
C1orf52	OT8RQW3W	Strong	Biomarker	[15]
EFHC1	OTS9IBNE	Strong	Genetic Variation	[16]
LGI1	OTPS77HO	Strong	Genetic Variation	[17]
LRRC4	OT7XJ70N	Strong	Biomarker	[15]
SCN1B	OTGD78J3	Strong	Genetic Variation	[18]
STRADA	OTG1Z6TY	Strong	Genetic Variation	[19]
TBC1D24	OTKZUSMD	Strong	Genetic Variation	[20]
GABRB3	OT80C3D4	Definitive	Genetic Variation	[21]
STX1B	OTSW59X0	Definitive	Genetic Variation	[22]
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⏷ Show the Full List of 12 DOT(s)

References

1	Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies.Epilepsia. 2019 Jun;60(6):1137-1149. doi: 10.1111/epi.15160. Epub 2019 May 14.
2	Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.Neurology. 2016 Sep 13;87(11):1140-51. doi: 10.1212/WNL.0000000000003087. Epub 2016 Aug 12.
3	A structural look at GABA(A) receptor mutations linked to epilepsy syndromes.Brain Res. 2019 Jul 1;1714:234-247. doi: 10.1016/j.brainres.2019.03.004. Epub 2019 Mar 7.
4	Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy.Epilepsy Res. 2018 Mar;141:48-55. doi: 10.1016/j.eplepsyres.2018.02.003. Epub 2018 Feb 12.
5	Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants.Ann Neurol. 2007 Dec;62(6):560-8. doi: 10.1002/ana.21169.
6	GRIN2A mutations in epilepsy-aphasia spectrum disorders.Brain Dev. 2018 Mar;40(3):205-210. doi: 10.1016/j.braindev.2017.09.007. Epub 2017 Oct 19.
7	Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.Proc Natl Acad Sci U S A. 2000 Apr 25;97(9):4914-9. doi: 10.1073/pnas.090092797.
8	Severe infantile epileptic encephalopathy due to mutations in PLCB1: expansion of the genotypic and phenotypic disease spectrum.Dev Med Child Neurol. 2014 Nov;56(11):1124-8. doi: 10.1111/dmcn.12450. Epub 2014 Mar 29.
9	Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.Seizure. 2020 Jan;74:8-13. doi: 10.1016/j.seizure.2019.10.019. Epub 2019 Nov 8.
10	Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.Hum Mutat. 2018 Dec;39(12):1942-1956. doi: 10.1002/humu.23619. Epub 2018 Sep 13.
11	SCN3A deficiency associated with increased seizure susceptibility.Neurobiol Dis. 2017 Jun;102:38-48. doi: 10.1016/j.nbd.2017.02.006. Epub 2017 Feb 22.
12	Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038.
13	Expression profile of N-cadherin and protocadherin-19 in postnatal mouse limbic structures.J Comp Neurol. 2018 Mar 1;526(4):663-680. doi: 10.1002/cne.24359. Epub 2017 Dec 3.
14	LGI1 and CASPR2 autoimmunity in children: Systematic literature review and report of a young girl with Morvan syndrome.J Neuroimmunol. 2019 Oct 15;335:577008. doi: 10.1016/j.jneuroim.2019.577008. Epub 2019 Jul 18.
15	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.
16	Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.Neurology. 2006 Dec 12;67(11):2029-31. doi: 10.1212/01.wnl.0000250254.67042.1b.
17	Inactivation of Lgi1 in murine neuronal precursor cells leads to dysregulation of axon guidance pathways.Genomics. 2020 Mar;112(2):1167-1172. doi: 10.1016/j.ygeno.2019.07.001. Epub 2019 Jul 2.
18	Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy. Clin Genet. 2017 Sep;92(3):327-331. doi: 10.1111/cge.12999. Epub 2017 Apr 19.
19	Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE). Am J Med Genet A. 2016 Aug;170(8):2181-5. doi: 10.1002/ajmg.a.37727. Epub 2016 May 12.
20	Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.Eur J Paediatr Neurol. 2015 Mar;19(2):251-6. doi: 10.1016/j.ejpn.2014.12.011. Epub 2014 Dec 20.
21	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.
22	Sleep-related hypermotor epilepsy and peri-ictal hypotension in a patient with syntaxin-1B mutation.Epileptic Disord. 2018 Oct 1;20(5):413-417. doi: 10.1684/epd.2018.0996.