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Molecular Genetics of Human Familial Epilepsy Syndromes
Author(s) -
Hirose Shinichi,
Okada Motohiro,
Kaneko Sunao,
Mitsudome Akihisa
Publication year - 2002
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1046/j.1528-1157.43.s.9.6.x
Subject(s) - epilepsy , juvenile myoclonic epilepsy , epilepsy syndromes , neuroscience , idiopathic generalized epilepsy , familial hemiplegic migraine , mutation , childhood absence epilepsy , ataxia , genetics , biology , medicine , gene , migraine with aura , aura , migraine
Summary: Genetic defects have been recently identified in certain inherited epilepsy syndromes in which the phenotypes are similar to those of common idiopathic epilepsies. Mutations in the neuronal nicotinic acetylcholine receptor α 4 and β 2 subunit genes have been detected in families with autosomal dominant nocturnal frontal lobe epilepsy. Both receptors are components of neuronal acetylcholine receptor, a ligand‐gated ion channel in the brain. Furthermore, mutations of two K + channel genes also were identified as the underlying genetic abnormalities of benign familial neonatal convulsions. Mutations in the voltage‐gated Na + ‐channel α 1 and β 1 subunit genes were found as the cause of generalized epilepsy with febrile seizures plus, a clinical subset of febrile convulsions. Mutation of a voltage‐gated K + ‐channel gene can cause partial seizures associated with periodic ataxia type 1 and some forms of juvenile myoclonic epilepsy can result from mutations of a Ca 2+ channel. This line of evidence suggests the involvement of channels expressed in the brain in the pathogenesis of certain types of epilepsy. Our working hypothesis is to view certain idiopathic epilepsies as disorders of ion channels (i.e., “channelopathies”). Such a hypothesis should provide a new insight into our understanding of the genetic background of epilepsy.