Genes and mutations in human idiopathic epilepsy.
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.
Steinlein
Ortrud K
OK
Institute of Human Genetics, University Hospital Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany. ortrud.steinlein@ukb.uni-bonn.de
D001923:Brain Chemistry / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007473:Ion Channels / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics
D007473:Ion Channels; D011963:Receptors, GABA-A