KEGG   DISEASE: Idiopathic generalized epilepsies
Entry
H00808                      Disease                                
Name
Idiopathic generalized epilepsies
  Subgroup
Childhood absence epilepsy [DS:H02215]
Juvenile absence epilepsy [DS:H02216]
Juvenile myoclonic epilepsy [DS:H02217]
Epilepsy with generalized tonic-clonic seizures alone
Description
Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic-clonic seizures alone. Although autosomal dominant inheritance occurs in rare families, clinical genetic data indicate that complex inheritance involving two or more genes is likely in the majority of families.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H00808  Idiopathic generalized epilepsies
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H00808  Idiopathic generalized epilepsies
Related
pathway
hsa04727  GABAergic synapse
hsa04010  MAPK signaling pathway
hsa04723  Retrograde endocannabinoid signaling
hsa04080  Neuroactive ligand-receptor interaction
Gene
(EIG6) CACNA1H [HSA:8912] [KO:K04855]
(EIG8) CASR [HSA:846] [KO:K04612]
(EIG9) CACNB4 [HSA:785] [KO:K04865]
(EIG10) GABRD [HSA:2563] [KO:K05184]
(EIG11) CLCN2 [HSA:1181] [KO:K05011]
(EIG12) SLC2A1 [HSA:6513] [KO:K07299]
(EIG13) GABRA1 [HSA:2554] [KO:K05175]
(EIG14) SLC12A5 [HSA:57468] [KO:K23967]
(EIG15) RORB [HSA:6096] [KO:K08533]
(EIG16) KCNMA1 [HSA:3778] [KO:K04936]
Drug
Levetiracetam [DR:D00709]
Comment
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, and approaches for classifying seizures and forms of epilepsy. Genetic, structural-metabolic, and unknown represent modified concepts to replace idiopathic, symptomatic, and cryptogenic.
Other DBs
ICD-11: 8A61
ICD-10: G40.3
MeSH: C562694
OMIM: 600669 611942 612899 607682 613060 607628 614847 611136 616685 618357 618596
Reference
  Authors
Marini C, Scheffer IE, Crossland KM, Grinton BE, Phillips FL, McMahon JM, Turner SJ, Dean JT, Kivity S, Mazarib A, Neufeld MY, Korczyn AD, Harkin LA, Dibbens LM, Wallace RH, Mulley JC, Berkovic SF
  Title
Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.
  Journal
Epilepsia 45:467-78 (2004)
DOI:10.1111/j.0013-9580.2004.46803.x
Reference
  Authors
Weber YG, Lerche H
  Title
Genetic mechanisms in idiopathic epilepsies.
  Journal
Dev Med Child Neurol 50:648-54 (2008)
DOI:10.1111/j.1469-8749.2008.03058.x
Reference
PMID:15048902 (CACNA1H)
  Authors
Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, Scheffer IE
  Title
Genetic variation of CACNA1H in idiopathic generalized epilepsy.
  Journal
Ann Neurol 55:595-6 (2004)
DOI:10.1002/ana.20028
Reference
PMID:18756473 (CASR)
  Authors
Kapoor A, Satishchandra P, Ratnapriya R, Reddy R, Kadandale J, Shankar SK, Anand A
  Title
An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.
  Journal
Ann Neurol 64:158-67 (2008)
DOI:10.1002/ana.21428
Reference
PMID:10762541 (CACNB4)
  Authors
Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH
  Title
Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.
  Journal
Am J Hum Genet 66:1531-9 (2000)
DOI:10.1086/302909
Reference
PMID:15115768 (GABRD)
  Authors
Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, Jenkins M, Petrou S, Sutherland GR, Scheffer IE, Berkovic SF, Macdonald RL, Mulley JC
  Title
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
  Journal
Hum Mol Genet 13:1315-9 (2004)
DOI:10.1093/hmg/ddh146
Reference
PMID:12612585 (CLCN2)
  Authors
Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller-Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A
  Title
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
  Journal
Nat Genet 33:527-32 (2003)
DOI:10.1038/ng1121
Reference
PMID:23280796 (SLC2A1)
  Authors
Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
  Title
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
  Journal
Ann Neurol 72:807-15 (2012)
DOI:10.1002/ana.23702
Reference
PMID:21714819 (GABRA1)
  Authors
Lachance-Touchette P, Brown P, Meloche C, Kinirons P, Lapointe L, Lacasse H, Lortie A, Carmant L, Bedford F, Bowie D, Cossette P
  Title
Novel alpha1 and gamma2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.
  Journal
Eur J Neurosci 34:237-49 (2011)
DOI:10.1111/j.1460-9568.2011.07767.x
Reference
PMID:24928908 (SLC12A5)
  Authors
Kahle KT, Merner ND, Friedel P, Silayeva L, Liang B, Khanna A, Shang Y, Lachance-Touchette P, Bourassa C, Levert A, Dion PA, Walcott B, Spiegelman D, Dionne-Laporte A, Hodgkinson A, Awadalla P, Nikbakht H, Majewski J, Cossette P, Deeb TZ, Moss SJ, Medina I, Rouleau GA
  Title
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
  Journal
EMBO Rep 15:766-74 (2014)
DOI:10.15252/embr.201438840
Reference
PMID:27352968 (RORB)
  Authors
Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Moller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Bena F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P
  Title
Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.
  Journal
Eur J Hum Genet 24:1761-1770 (2016)
DOI:10.1038/ejhg.2016.80
Reference
PMID:29330545 (KCNMA1)
  Authors
Li X, Poschmann S, Chen Q, Fazeli W, Oundjian NJ, Snoeijen-Schouwenaars FM, Fricke O, Kamsteeg EJ, Willemsen M, Wang QK
  Title
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca(2+) sensitivity.
  Journal
Eur J Hum Genet 26:220-229 (2018)
DOI:10.1038/s41431-017-0073-3
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