Genetic identifiers of epilepsy.
Epilepsy affects >0.5% of the world's population and has a large genetic component. The most common human genetic epilepsies display a complex pattern of inheritance, and the identity of the susceptibility genes is largely unknown despite recent advances in molecular biology. However, genetic identifiers of certain types of epilepsy with neurodegenerative characteristics and of a small number of familial idiopathic epilepsies have been uncovered to date. This article reviews recent progress made in molecular genetics of epilepsy, focusing mostly on idiopathic epilepsy together with our own discovery of novel mutations in the genes of autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions (BFNCs), and the genetic locus of benign adult familial myoclonic epilepsy. Pathogenesis of epilepsy as a channelopathy and of BFNC also is discussed.
Kaneko
Sunao
S
Department of Neuropsychiatry, Hirosaki University, Hirosaki, Japan. nosanai@cc.hirosaki-u.ac.jp
Iwasa
Hiroto
H
Okada
Motohiro
M
D000328:Adult; D000367:Age Factors; D002648:Child; D002869:Chromosome Aberrations; D002874:Chromosome Mapping; D004831:Epilepsies, Myoclonic / Q000235:genetics; D004828:Epilepsies, Partial / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D020936:Epilepsy, Benign Neonatal / Q000235:genetics; D017034:Epilepsy, Frontal Lobe / Q000235:genetics; D004829:Epilepsy, Generalized / Q000235:genetics; D019305:Epilepsy, Rolandic / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D007473:Ion Channels / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic; D017027:Protein Tyrosine Phosphatases / Q000032:analysis; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D003294:Seizures, Febrile / Q000235:genetics; D012890:Sleep; D013997:Time Factors
D005819:Genetic Markers; D007473:Ion Channels; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C114990:EPM2A protein, human