Channelopathies as a genetic cause of epilepsy

Abstract

Purpose of review: This review describes the significant number of new gene associations with epilepsy syndromes that have emerged during the past year, together with additional mutations and new electrophysiological data relating to previously known gene associations. Recent findings: Autosomal dominant juvenile myoclonic epilepsy was demonstrated to be a channelopathy associated with a GABAA receptor, α1 subunit mutation. Benign familial neonatal infantile seizures were delineated as another channelopathy of infancy, by molecular characterization of sodium channel, α2 subunit defects. A sodium channel, α2 subunit defect was previously found to be associated with generalized epilepsy with f..