SCN1A基因突变与相关癫(癎)综合征的研究进展

摘要

SCN1A基因编码电压门控钠离子通道a1亚单位,是引起可兴奋细胞如神经细胞动作电位的基本单位.SCN1A基因是与癫(癎)综合征相关的最重要的基因之一.SCN1A基因突变导致癫(癎)表型异质性,临床表现多样化,轻者表现为热性惊厥,重者表现为婴儿严重肌阵挛性癫(癎).通过检索SCN1A基因突变数据库,发现约900多种与癫(癎)综合征相关的基因突变.该文就SCN1A基因突变与相关癫(癎)综合征及SCN1A基因筛查的重要意义作一综述.%Among the genes involved in epilepsy,the SCN1 A gene represents one of the most commonly mutated human epilepsy genes, refers to be as super culprit gene, SCN1 A mutations cause epilepsy phenotype heterogeneity, diversity of clinical manifestations, the light performance of febrile seizures, it shows severe infant severe myoclonic epilepsy.By retrieving SCN1 A in gene mutation database, about 900 gene mutatation are associated with epilepsy syndrome.This article reviews the importance of SCN1 A gene mutation associates with epilepsy syndrome,and the importance of genetic screening SCN1 A.