title: [Genetic aberrations and epilepsy].
abstract: Despite its frequency in central nervous disease, epilepsy's molecular pathogenesis has been unclear. Still, the association of genes causing epilepsy--and particular familial epilepsy--have ben ascertained, as having abnormalities identified in gene encoding ion channels and receptors. Knowledge of sporadic epilepsy, for its part, has been much improved by a next generation sequencer, but epilepsy's molecular mechanisms remain uncertain even now, when some 400 genes have been identified. The identification of genetic abnormalities is, nonetheless, helpful in diagnosis, treatment, and counseling for the disease. Here, we describe epilepsies in which genetic analyses are useful, the contributions made by new technologies, and future prospects in the understanding and treatment of epilepsy.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Ishii
authors.forename: Shinichi
authors.initials: S
authors.lastname: Hirose
mesh_terms: D002869:Chromosome Aberrations; D004827:Epilepsy / Q000145:classification / Q000235:genetics*; D059472:Exome; D005817:Genetic Counseling; D006801:Humans; D009154:Mutation; D057089:Pathology, Molecular / Q000639:trends