Ion Channels: Ion Channel Mutations in Familial Epilepsy

Abstract

There is little doubt that familial mutations in ion channel genes cause human epilepsies. Functionally, our understanding is largely limited to knowledge of the biophysical defect associated with a given ion channel mutation. One challenge in familial epilepsy research is to reveal . complete mechanisms of epileptogenesis related to specific ion channel mutations, to bridge the knowledge gap from molecule to behavioral seizure. Here, we provide an overview of the complex nature of ion channel neurobiology in epilepsy in order to emphasize the multidisciplinary approaches needed for assessing the impact of disease-causing mutations on pathogenesis at the molecular, neuronal, and network leve..