KEGG   DISEASE: H00808Help
Entry
H00808                      Disease                                

Name
Idiopathic generalized epilepsies (IGEs), including:
Childhood absence epilepsy (CAE);
Juvenile absence epilepsy (JAE);
Juvenile myoclonic epilepsy (JME);
Epilepsy with generalized tonic-clonic seizures alone;
Familial infantile myoclonic epilepsy (FIME)
Description
Idiopathic generalized epilepsies (IGEs) 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 (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), 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 hierarchy
Pathway
Neuroactive ligand-receptor interaction
Mineral absorption
GABAergic synapse
MAPK signaling pathway
Cardiac muscle contraction
Gene
(JAE, ECA3) CLCN2 [HSA:1181] [KO:K05011]
(ECA2) GABRG2 [HSA:2566] [KO:K05186]
(ECA4, EJM4) GABRA1 [HSA:2554] [KO:K05175]
(EJM1) EFHC1 [HSA:114327]
(EJM5) CACNB4 [HSA:785] [KO:K04865]
(FIME) TBC1D24 [HSA:57465]
Marker
EEG monitoring
Other DBs
Reference
PMID:15101828 (description, marker)
  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)
Reference
PMID:18754913 (description, gene, marker)
  Authors
Weber YG, Lerche H
  Title
Genetic mechanisms in idiopathic epilepsies.
  Journal
Dev Med Child Neurol 50:648-54 (2008)
Reference
PMID:20727515 (name, gene)
  Authors
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F
  Title
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic  epilepsy.
  Journal
Am J Hum Genet 87:365-70 (2010)

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