Navigating the channels and beyond: unravelling the genetics of the epilepsies

Abstract

Genetic factors are now recognised to have an even more important role in epilepsies than previously appreciated. Rare mendelian forms of epilepsy are now well recognised, and there is evidence of complex inheritance due to multiple susceptibility genes in most idiopathic epilepsies. The complexities of epilepsy classification and the variety of clinical genetic methodologies (family aggregation, twin, and multiplex family studies) have led to an apparently confusing picture. Molecular approaches have revealed genes for many mendelian epilepsies. Most encode ion-channel subunits, but major challenges remain in understanding phenotype-genotype relationships. These challenges are even greater ..