发育医学电子杂志 Vol. 3 52-55
临床遗传
综述
基因在婴儿痉挛发病机制中的作用
刘一沉 石秀玉 邹丽萍
1.中国人民解放军总医院 2.解放军第一五九中心医院 3.北京脑重大疾病研究院
The role of genes in the pathogenesis of infantile spasm
LIU Yi-chen,SHI Xiu-yu,ZOU Li-ping
摘要 婴儿痉挛症（infantile spasms，IS）又称West 综合征，是一种婴儿期常见的难治性癫痫综合 征，最早由West在1841年首先进行描述［1］ 。IS 的平均发病率为1:3200（活产婴）［2］ ，60%为男 孩。IS的主要临床特点为婴儿期起病、频繁的强 直痉挛发作、高峰失律（hypsarrhythmia）脑电图 和智力发育障碍等［3］ 。目前，已知有200多种病 因可致IS，包括围产期脑损伤、先天性脑发育异 常、脑外伤、颅内出血、结节性硬化症、Down综 合征、遗传代谢病、基因突变、染色体畸形等， 甚至先天性巨细胞病毒、风疹病毒感染等均可引 起IS。尽管近年来分子生物学、影像学、神经解 剖学及神经免疫学等学科不断地发展，同时在IS 的病因诊断及治疗上取得了一定的进展，但是关 于激发IS的发病机制仍不清楚。遗传因素是导致 癫痫的重要原因，目前研究已发现几十个与IS相 关的致病基因。
关键词:
婴儿痉挛症 ')" href="#">婴儿痉挛症
大脑皮质发育障碍')" href="#"> 大脑皮质发育 障碍
West综合征 ')" href="#"> West 综合征
收稿日期: 2014-11-11
出版日期: 2015-01-30
发布日期: 2019-07-20
期的出版日期: 2015-01-30
通讯作者:
邹丽萍https://baike.baidu.com/item/%E9%82%B9%E4%B8%BD%E8%90%8D
E-mail: zouliping21@hotmail.com
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