癫痫杂志

癫痫杂志

儿童癫痫综合征遗传研究进展

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癫痫是一种多基因遗传的复杂疾病,其表型特征涉及多个基因序列和表达的改变,目前已明确与人类癫痫相关的基因有500多个,所涉及的癫痫种类众多,表型各异。新一代测序技术极大地增加了新的癫痫致病基因的发现速度,使临床能够确定越来越多患者的癫痫遗传病因,并更好地理解该疾病潜在的病理生理机制。儿童癫痫综合征具有特殊的临床及电生理特征,常具有明显的遗传背景,特定年龄段起病,因此在癫痫相关遗传研究中也有着最为丰硕的收获。文章就遗传性全面强直-阵挛发作性癫痫、全面性癫痫伴热性惊厥附加症、儿童失神癫痫、青少年肌阵挛癫痫等儿童癫痫综合征相关的致病基因,特别是电压门控离子通道的亚基,以及配体门控离子通道的亚基等最新研究进展进行总结。

关键词: 儿童癫痫综合征; 基因; 离子通道

引用本文: 陈叶红, 高在芬, 韩涛, 臧轲君, 吴怀宽, 苏永鑫, 刘学伍. 儿童癫痫综合征遗传研究进展. 癫痫杂志, 2017, 3(5): 410-413. doi: 10.7507/2096-0247.20170064 复制

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