[Progress in molecular genetics of epilepsy].
Epilepsy is a group of disorders characterized by recurrent seizures. The etiologies of idiopathic epilepsy commonly have a genetic basis. Gene mutations causing several of the inherited epilepsies have been mapped. In this review, the authors summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability and gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function.
Tang
Beisha
B
Department of Neurology, Xiangya Hospital, Central-South University, Changsha, Hunan, 410008 P. R. China. bstang7398@yahoo.com.cn
Zhang
Yuhu
Y
D004827:Epilepsy / Q000235:genetics*; D006801:Humans; D051658:KCNQ2 Potassium Channel; D009154:Mutation; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics; D024642:Potassium Channels, Voltage-Gated; D011978:Receptors, Nicotinic / Q000235:genetics; D012106:Research / Q000639:trends*; D012107:Research Design; D015222:Sodium Channels / Q000235:genetics; D062547:Voltage-Gated Sodium Channel beta-1 Subunit
D051658:KCNQ2 Potassium Channel; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; D011978:Receptors, Nicotinic; D015222:Sodium Channels; D062547:Voltage-Gated Sodium Channel beta-1 Subunit; C496914:KCNQ2 protein, human; C568242:SCN1A protein, human; C470379:SCN1B protein, human