Ion channels and epilepsy in man and mouse.
Inherited disorders of voltage-gated ion channels are a recently recognized etiology of epilepsy in the developing and mature central nervous system. Two human epilepsy syndromes, benign familial neonatal convulsions and generalized epilepsy with febrile seizures plus, represent K+ and Na+ channelopathies, and other newly defined syndromes have now been mapped to chromosomal regions that are rich in ion channel genes. Experimental mouse models promise a resolution of their intriguing pathophysiology, which includes a diverse array of cellular phenotypes consistent with the differential contributions of individual channels to excitability in neural networks.
Steinlein
O K
OK
Institute for Human Genetics, University of Bonn, D-53111 Bonn, Germany. osteinl@mailer.meb.uni-bonn.de
Noebels
J L
JL
D000818:Animals; D001921:Brain / Q000503:physiopathology*; D015220:Calcium Channels / Q000502:physiology; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007473:Ion Channels / Q000235:genetics* / Q000502:physiology; D051379:Mice; D015221:Potassium Channels / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics
D015220:Calcium Channels; D007473:Ion Channels; D015221:Potassium Channels; D015222:Sodium Channels