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STXBP1相关发育性和癫痫性脑病1例及文献综述

刘维亮,李芳,何志旭,艾戎

Journal of Shanxi Medical University（2020）

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Abstract
癫痫性脑病是一种严重脑部进行性疾病,以频繁或严重的癫痫发作以及大量的发作间期阵发性异常脑电活动为主,可导致进行性认知和行为障碍[1].既往在大田原综合征和几种早发性癫痫脑病患者中发现有突触融合蛋白结合蛋白1 (syntaxin-binding protein 1,STXBP1)基因突变[2].
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