【摘 要】
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"Channlepsy" is a compounder of channelopathy—i.e., disease resulting from channel dysfunction—and epilepsy.Channelepsy thus indicates epilepsy resulting
【机 构】
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Department of Pediatrics, School of Medicine Research Institute for the Molecular Pathomechanisms of
【出 处】
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中国神经科学学会第九届全国学术会议暨第五届会员代表大会
论文部分内容阅读
"Channlepsy" is a compounder of channelopathy—i.e., disease resulting from channel dysfunction—and epilepsy.Channelepsy thus indicates epilepsy resulting from channel dysfunctions.The notion that some, if not all epilepsies, are channelopathies, is a result of recent molecular research into epilepsies.Supporting the notion, in fact, some 20 epilepsies have been recognized as "channelepsies".Such channelepsies include autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) resulting from mutations of neuronal nicotinic acetylcholine receptor (nAChR), which is a ligand gated ion channel, benign familial neonatal seizures (BFNS) from mutations of potassium channels, genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome from mutations of sodium channels and more.
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