Details of Disease

Disease Name

Epilepsy, idiopathic generalized

generalized epilepsy; epilepsy, idiopathic generalized; idiopathic generalized epilepsy; generalised epilepsy; idiopathic generalised epilepsy; EIG

Definition

A chronic condition characterized by recurrent generalized seizures.

Disease Hierarchy

DISD715V: Hereditary neurological disease

DISBB28L: Epilepsy

DISBBY0S: Idiopathic disease

DISODZC9: Epilepsy, idiopathic generalized

Disease Identifiers

MONDO ID

MONDO_0005579

UMLS CUI

C0270850

OMIM ID

600669

MedGen ID

75725

SNOMED CT ID

36803009

General Information of Disease (ID: DISODZC9)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 25 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC12A5	TTH6UZY	moderate	Biomarker	[1]
SLC12A6	TT8DFHE	moderate	Genetic Variation	[2]
CACNA1G	TT729IR	Strong	Biomarker	[3]
CACNA1H	TTZPWGN	Strong	Genetic Variation	[4]
CASR	TTBUYHA	Strong	Genetic Variation	[5]
CHRNA4	TT4H1MQ	Strong	Genetic Variation	[6]
CHRNA7	TTLA931	Strong	Genetic Variation	[7]
CHRNB2	TT5KPZR	Strong	Genetic Variation	[8]
F13A1	TTXI2RA	Strong	Biomarker	[9]
GABRA1	TT1MPAY	Strong	CausalMutation	[10]
GABRG2	TT06RH5	Strong	Genetic Variation	[11]
GJA8	TTJ7ATH	Strong	Biomarker	[12]
GRIK1	TT0MYE2	Strong	Biomarker	[13]
GRM7	TT0I76D	Strong	Genetic Variation	[14]
GRM8	TT0IFKL	Strong	Genetic Variation	[14]
HCN1	TTNB6UQ	Strong	Genetic Variation	[15]
HCN2	TT9EUT4	Strong	Genetic Variation	[16]
KCND3	TTPLQO0	Strong	Genetic Variation	[17]
KCNJ10	TTG140O	Strong	Genetic Variation	[18]
KCNJ3	TTGM19J	Strong	Genetic Variation	[19]
KCNJ6	TTTIBVP	Strong	Biomarker	[19]
SCN1A	TTANOZH	Strong	Genetic Variation	[20]
SLC2A1	TT79TKF	Strong	Biomarker	[21]
CLCN2	TT30NW6	Definitive	Genetic Variation	[22]
HTR2C	TTWJBZ5	Definitive	Genetic Variation	[23]
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⏷ Show the Full List of 25 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC4A3	DT4X2AH	Disputed	Genetic Variation	[24]
CACNB4	DTV8E46	Strong	Biomarker	[25]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PNPO	DE3Z1RA	Strong	Genetic Variation	[26]
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This Disease Is Related to 24 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FERD3L	OTW351LV	Limited	Biomarker	[27]
JRK	OTO8E77P	Limited	Genetic Variation	[28]
LGI4	OTZGS8BN	Limited	Biomarker	[29]
TCOF1	OT4BOYTM	Limited	Genetic Variation	[30]
EFHC1	OTS9IBNE	moderate	Genetic Variation	[31]
LGALS14	OTOR23GX	moderate	Genetic Variation	[22]
RBFOX1	OTFPKEL7	moderate	Genetic Variation	[32]
BABAM2	OTOY7FNT	Strong	Biomarker	[33]
CAPN3	OTCHG3YK	Strong	Biomarker	[34]
CHRNB3	OTE5XENW	Strong	Genetic Variation	[35]
COL17A1	OTID5AH2	Strong	Altered Expression	[36]
GABRA6	OTX4UC3O	Strong	Genetic Variation	[37]
GABRB3	OT80C3D4	Strong	Biomarker	[38]
GPHN	OTAKK1SV	Strong	Genetic Variation	[39]
HLA-F	OT76CM19	Strong	Genetic Variation	[40]
KCNMB3	OT2SRKQE	Strong	Genetic Variation	[41]
LGI1	OTPS77HO	Strong	Biomarker	[42]
LY86	OTTZB64A	Strong	Genetic Variation	[43]
ME2	OTO4LL76	Strong	Genetic Variation	[44]
NIPA1	OT9ODC8X	Strong	Biomarker	[45]
NPL	OTA7P0TO	Strong	Biomarker	[46]
NRXN1	OTJN1JQA	Strong	Genetic Variation	[32]
SYN2	OTK0DEGH	Strong	Genetic Variation	[37]
SYNGAP1	OT41HVYQ	Strong	Genetic Variation	[47]
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⏷ Show the Full List of 24 DOT(s)

References

1	Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.EMBO Rep. 2014 Jul;15(7):766-74. doi: 10.15252/embr.201438840. Epub 2014 Jun 13.
2	Functional analysis of a potassium-chloride co-transporter 3 (SLC12A6) promoter polymorphism leading to an additional DNA methylation site. Neuropsychopharmacology. 2009 Jan;34(2):458-67.
3	Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online.Hum Mutat. 2007 May;28(5):524-5. doi: 10.1002/humu.9491.
4	Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility.J Physiol. 2014 Feb 15;592(4):795-809. doi: 10.1113/jphysiol.2013.264176. Epub 2013 Nov 25.
5	An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene. Ann Neurol. 2008 Aug;64(2):158-67. doi: 10.1002/ana.21428.
6	The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.Seizure. 2009 Oct;18(8):601-3. doi: 10.1016/j.seizure.2009.06.007. Epub 2009 Jul 3.
7	15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.Nat Genet. 2009 Feb;41(2):160-2. doi: 10.1038/ng.292. Epub 2009 Jan 11.
8	Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.J Clin Lab Anal. 2007;21(2):67-70. doi: 10.1002/jcla.20155.
9	Is there a genetic relationship between epilepsy and birth defects?.Neurology. 1992 Apr;42(4 Suppl 5):63-7.
10	De novo GABRA1 mutations in Ohtahara and West syndromes.Epilepsia. 2016 Apr;57(4):566-73. doi: 10.1111/epi.13344. Epub 2016 Feb 25.
11	GABRG2 C588T gene polymorphisms might be a predictive genetic marker of febrile seizures and generalized recurrent seizures: a case-control study in a Romanian pediatric population.Arch Med Sci. 2018 Jan;14(1):157-166. doi: 10.5114/aoms.2016.63739. Epub 2016 Nov 17.
12	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.
13	Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure.Am J Med Genet. 2002 Apr 8;114(3):354-9. doi: 10.1002/ajmg.10254.
14	No association found between polymorphisms in genes encoding mGluR7 and mGluR8 and idiopathic generalised epilepsy in a case control study.Epilepsy Res. 2000 Mar;39(1):27-31. doi: 10.1016/s0920-1211(99)00096-0.
15	Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy.Neurobiol Dis. 2008 Jan;29(1):59-70. doi: 10.1016/j.nbd.2007.08.006. Epub 2007 Aug 24.
16	Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.J Neurosci. 2011 Nov 30;31(48):17327-37. doi: 10.1523/JNEUROSCI.3727-11.2011.
17	Genetic abnormalities underlying familial epilepsy syndromes.Brain Dev. 2002 Jun;24(4):211-22. doi: 10.1016/s0387-7604(02)00056-6.
18	Contribution of KCNJ10 gene polymorphisms in childhood epilepsy.J Child Neurol. 2015 Mar;30(3):296-300. doi: 10.1177/0883073814539560. Epub 2014 Jul 9.
19	Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes.Epilepsy Res. 2002 Dec;52(2):107-16. doi: 10.1016/s0920-1211(02)00195-x.
20	Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.Neurol Sci. 2020 Mar;41(3):591-598. doi: 10.1007/s10072-019-04122-9. Epub 2019 Nov 13.
21	A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.Eur J Med Genet. 2016 Nov;59(11):564-568. doi: 10.1016/j.ejmg.2016.10.003. Epub 2016 Oct 8.
22	Regulation of ClC-2 gating by intracellular ATP.Pflugers Arch. 2013 Oct;465(10):1423-37. doi: 10.1007/s00424-013-1286-0. Epub 2013 May 1.
23	Association analysis between a Cys23Ser substitution polymorphism of the human 5-HT2c receptor gene and neuronal hyperexcitability.Am J Med Genet. 1999 Apr 16;88(2):126-30.
24	Characterization of an epilepsy-associated variant of the human Cl-/HCO3(-) exchanger AE3.Am J Physiol Cell Physiol. 2009 Sep;297(3):C526-36. doi: 10.1152/ajpcell.00572.2008. Epub 2009 Jul 15.
25	Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. doi: 10.1086/302909. Epub 2000 Apr 4.
26	Genetics of the epilepsies: where are we and where are we going?.Curr Opin Neurol. 2013 Apr;26(2):179-85. doi: 10.1097/WCO.0b013e32835ee6ff.
27	Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.Am J Med Genet A. 2012 Jul;158A(7):1680-5. doi: 10.1002/ajmg.a.35367. Epub 2012 May 24.
28	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.
29	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.
30	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.
31	Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.Epilepsia. 2015 Feb;56(2):188-94. doi: 10.1111/epi.12864. Epub 2014 Dec 8.
32	Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.Epilepsia. 2014 Oct;55(10):1651-8. doi: 10.1111/epi.12767. Epub 2014 Sep 19.
33	Exclusion of linkage of genetic focal sharp waves to the HLA region on chromosome 6p in families with benign partial epilepsy with centrotemporal sharp waves.Neuropediatrics. 1993 Aug;24(4):208-10. doi: 10.1055/s-2008-1071541.
34	Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?.Neurol Sci. 2006 Jun;27(2):134-6. doi: 10.1007/s10072-006-0615-x.
35	Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity.Am J Hum Genet. 1999 May;64(5):1411-9. doi: 10.1086/302371.
36	Basement membrane zone IgE deposition is associated with bullous pemphigoid disease severity and treatment results.Br J Dermatol. 2020 May;182(5):1221-1227. doi: 10.1111/bjd.18364. Epub 2019 Oct 16.
37	Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.Epilepsy Res. 2014 Oct;108(8):1267-73. doi: 10.1016/j.eplepsyres.2014.07.001. Epub 2014 Jul 18.
38	Screening of GABRB3 in French-Canadian families with idiopathic generalized epilepsy.Epilepsia. 2010 Sep;51(9):1894-7. doi: 10.1111/j.1528-1167.2010.02642.x.
39	Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.Neurobiol Dis. 2014 Jul;67:88-96. doi: 10.1016/j.nbd.2014.02.001. Epub 2014 Feb 19.
40	Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy.Am J Med Genet. 1999 Aug 20;88(4):305-10. doi: 10.1002/(sici)1096-8628(19990820)88:4<305::aid-ajmg5>3.0.co;2-x.
41	Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5;144B(1):10-3. doi: 10.1002/ajmg.b.30369.
42	LGI1 mutations in autosomal dominant partial epilepsy with auditory features.Neurology. 2004 Apr 13;62(7):1120-6. doi: 10.1212/01.wnl.0000120098.39231.6e.
43	Single nucleotide polymorphisms and haplotype of MD-1 gene associated with high serum IgE phenotype with mite-sensitive allergy in Taiwanese children.Int J Immunogenet. 2007 Dec;34(6):407-12. doi: 10.1111/j.1744-313X.2007.00711.x.
44	Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.Am J Hum Genet. 2005 Jan;76(1):139-46. doi: 10.1086/426735. Epub 2004 Nov 5.
45	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.
46	The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy.Epilepsy Res. 1998 Jan;29(2):115-22. doi: 10.1016/s0920-1211(97)00073-9.
47	Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.Seizure. 2019 Feb;65:131-137. doi: 10.1016/j.seizure.2018.12.020. Epub 2018 Dec 22.