发育医学电子杂志 Vol. 6 58-64
临床遗传
综述
｜新生儿
早期婴儿型癫痫性脑病的分子 遗传学研究进展
李月珍 王斌
李月珍 王斌（南方医科大学珠江医院 儿科中心，广东 广州 510282）
Advances in molecular genetics of early infantile epileptic encephalopathy
LI Yue-zhen, WANG Bin
摘要 早期婴儿型癫痫性脑病（early infantile epileptic encephalopathy，EIEE）是指1组在婴幼儿期起病的难治性癫痫，由于频繁的癫痫发作或发作间期癫痫样放电可导致严重认知和行为障碍，同时基因突变本身也可导致患儿精神运动发育迟缓［1］。迄今为止，已发现57个基因与EIEE有关（ http://www.omim.org/ ），见表1。其中包括STXBP1、SCN8A、SLC25A22、KCNT1、KCNQ2、CDKL5、ST3GAL3、SCN1A和TBC1D24等基因，覆盖神经元离子通道、神经递质合成释放、膜受体、转运蛋白、细胞代谢、以及神经元前体细胞增殖、迁移、分化、突触发生和修剪等多个方面［2］。目前研究最多的是离子通道类基因和神经递质受体类基因。最常见的癫痫脑病是Ohtahara综合征、West综合征、Lennox-Gastaut综合征、Dravet综合征、早期肌阵挛脑病等［3］。已有报道表明，ARX、CDKL5、MAGI2、SCN1A和MC4R等基因可致West综合征［4］；Na+通道基因（如SCN1A、SCN2A、SCN8A等）及其他基因（如PCDH19、GABRG2、CHD2等）可致Dravet综合征［5］。现就EIEE最新基因研究进行综述。
关键词:
早期婴儿型癫痫性脑病 ')" href="#">早期婴儿型癫痫性脑病
基因 ')" href="#">基因
收稿日期: 2017-12-11
出版日期: 2018-01-30
发布日期: 2018-04-02
期的出版日期: 2018-01-30
通讯作者:
王斌
E-mail: wangbin6556@126.com
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