Susceptibility genes in human epilepsy

Major advances in the identification of genetic loci and genes that predisp ose individuals to epilepsy have been made in the last several years. Two m ain themes for human, idiopathic epilepsies are emerging; genetic, or locus heterogeneity is not uncommon, and the discovery that epilepsy susceptibil ity genes are voltage-gated and ligand-gated ion channels. Knowledge that m ore than a single genetic locus is responsible for a single seizure type, a long with a wide spectrum of disease mutations among families will complica te clinical, diagnostic issues. Disease gene identification, such as the tw o potassium ion channels (KCNQ2 and KCNQ3) for the two forms of benign fami lial neonatal seizures (BFNC) and the alpha 4 subunit of the nicotinic rece ptor for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), howev er, should yield significant advances in drug discoveries. Understanding th e primary defect in inherited epilepsies provides for specific protein and pathway targets for potential drug intervention.