癫痫
离子通道
配体门控离子通道
基因
遗传学
电压门控离子通道
生物
钠通道
神经科学
化学
受体
钠
有机化学
作者
Yue Lang,Xiaofeng Wang,Jian Yin,Haojia Yu
出处
期刊:Chin J Neurol
日期:2018-08-08
卷期号:51 (8): 642-648
标识
DOI:10.3760/cma.j.issn.1006-7876.2018.08.017
摘要
Ion channels are crucial in the generation and modulation of excitability in the nervous system. Recent studies have demonstrated that 977 genes are associated with epilepsy, among which more than 60 genes encode ion channels predominantly, mainly including voltage-gated channel genes: sodium channel (SCA1A, SCN1B, SCN2A), potassium channel (KCNA2, KCNC1, KCNT1, KCNQ2, KCNQ3), chloride channel (CLCN2), calcium channel (CACNA1H, CACNA1A), and ligand-gated ion channel genes, which include GABA receptor genes (GABRA1, GABRB3, GABRD and GABRG2), neuronal nicotinic receptor genes (CHRNA4, CHRNB2) and other genes (HCN1, LGI1 and PRRT2). This review mainly focuses on the advances in ion channel genes and genetics of epilepsy, in order to assist the diagnoses and treatment in clinic.
Key words:
Epilepsy; Ion channel; Genetics
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