title: Recent progress in the genetics of human epilepsies.
abstract: Despite several lines of evidence indicating a strong genetic influence in the etiology of idiopathic epilepsies, progress in the mapping and identification of human epilepsy genes has been limited until recently. In addition to the localisation and/or isolation of several genes causing progressive epilepsies associated with cerebral degeneration, at least seven human genomic regions (6p, 8q, 10q, 15q, 16p, 19q, 20q) are now known to harbour genes implicated in idiopathic epilepsies. In the case of nocturnal frontal lobe epilepsy, mutations in a nicotinic acetylcholine receptor subunit gene have been identified. Systematic studies of rare epileptic disorders inherited as monogenic Mendelian traits, as well as studies on more complex polygenic idiopathic epilepsies, are still needed in order to identify all the epilepsy genes. This will allow better diagnosis and genetic counseling in families of affected individuals, a better understanding of both the pathophysiology of epilepsies and normal brain functioning, and the design of new pharmacological and genetic therapies.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, UK.
authors.forename: P
authors.initials: P
authors.lastname: Szepetowski
authors.forename: A P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D004195:Disease Models, Animal; D004827:Epilepsy / Q000145:classification / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans