Susceptibility genes in human epilepsy.
Major advances in the identification of genetic loci and genes that predispose individuals to epilepsy have been made in the last several years. Two main themes for human, idiopathic epilepsies are emerging; genetic, or locus heterogeneity is not uncommon, and the discovery that epilepsy susceptibility genes are voltage-gated and ligand-gated ion channels. Knowledge that more than a single genetic locus is responsible for a single seizure type, along with a wide spectrum of disease mutations among families will complicate clinical, diagnostic issues. Disease gene identification, such as the two potassium ion channels (KCNQ2 and KCNQ3) for the two forms of benign familial neonatal seizures (BFNC) and the alpha4 subunit of the nicotinic receptor for autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), however, should yield significant advances in drug discoveries. Understanding the primary defect in inherited epilepsies provides for specific protein and pathway targets for potential drug intervention.
Leppert
M F
MF
Department of Human Genetics, University of Utah, Salt Lake City 84112-5330, USA.
Singh
N
N
D002874:Chromosome Mapping; D004827:Epilepsy / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation