Advances in ion channel genes and genetics of epilepsy

VernacularTitle:离子通道与癫痫遗传学研究进展
Author: Yue LANG ¹ ; Xiaofeng WANG ; Jian YIN ; Haojia YU ; Hui ZHANG
Author Information

1. 116023,辽宁省大连医科大学附属第二医院神经医学重症科
Keywords: Epilepsy; Ion channel; Genetics
From: Chinese Journal of Neurology 2018;51(8):642-648
CountryChina
Language:Chinese
Abstract: 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 (SCALA,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.