KEGG DISEASE: Idiopathic generalized epilepsies

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06528  Calcium signaling
   H00808  Idiopathic generalized epilepsies
Cellular process
  nt06535  Efferocytosis
   H00808  Idiopathic generalized epilepsies

Pathway

hsa04020

Calcium signaling pathway

Network

nt06528 Calcium signaling
nt06535 Efferocytosis

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]

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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Network (4)   
   KEGG NETWORK (2)   
   KEGG VARIANT (2)   
Disease (12)   
   OMIM (12)   
Drug (1)   
   KEGG DRUG (1)   
Gene (22)   
   KEGG ORTHOLOGY (11)   
   KEGG GENES (11)   
Literature (13)   
   PubMed (13)   
All databases (52)   

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