Abstract
癫痫伴肌阵挛-失张力发作(EMAS)发病率低,包括多种全面性发作类型,预后个体差异大。目前认为遗传因素在EMAS发病中起主要作用,文献报道已发现8个致病基因与EMAS发病有关,分别为SCN1A、SCN1B、SCN2A、CHD2、SLC2A1、SLC6A1、SYNGAP1和STX1B基因,现对该病的分子遗传学研究进展进行综述。.
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More From: Zhonghua er ke za zhi = Chinese journal of pediatrics
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