Advances in ion channel genes and genetics of epilepsy / 中华神经科杂志

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.