Referenced in: none

Automatically associated channels: Kir2.3

Title: Genes and mutations in human idiopathic epilepsy.

Authors: Ortrud K Steinlein

Journal, date & volume: Brain Dev., 2004 Jun , 26, 213-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/15130686

Abstract
Thirteen genes have already been identified in human idiopathic epilepsies since 1995, but they account only for a minority of all epilepsy cases. Most of these genes are associated with rare monogenic epilepsy syndromes, but some of them contribute to the common epilepsy subtypes. The questions remains to be answered how many more epilepsy genes exist in brain. Idiopathic epilepsies are common neurological disorders, and it can therefore be expected that the total number of genes associated with an increased seizure susceptibility is much higher than 13. Most of the known genes code for either voltage-gated or ligand gated ion channels, but recently two epilepsy genes have been found which do not fit into the concept of epilepsies as channelopathies. It can therefore be suspected that more than one pathogenetic concept exists in epileptogenesis.