| H00808 | |
| H number | H00808 |
| Name | Idiopathic generalized epilepsies |
| 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 |
| Network | - |
| 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] (EIG18) HCN4 [HSA:10021] [KO:K04957] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| 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 619521 |
| Reference | PMID:15101828 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 PMID:18754913 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 PMID:15048902 (EIG6) 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 PMID:18756473 (EIG8) 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 PMID:10762541 (EIG9) 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 PMID:15115768 (EIG10) 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 PMID:12612585 (EIG11) 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 PMID:23280796 (EIG12) 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 PMID:21714819 (EIG13) 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 PMID:24928908 (EIG14) 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 PMID:27352968 (EIG15) 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 PMID:29330545 (EIG16) 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 PMID:30127718 (EIG18) AUTHORS Campostrini G, DiFrancesco JC, Castellotti B, Milanesi R, Gnecchi-Ruscone T, Bonzanni M, Bucchi A, Baruscotti M, Ferrarese C, Franceschetti S, Canafoglia L, Ragona F, Freri E, Labate A, Gambardella A, Costa C, Gellera C, Granata T, Barbuti A, DiFrancesco D TITLE A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability. JOURNAL Front Mol Neurosci 11:269 (2018) DOI:10.3389/fnmol.2018.00269 |