类细胞周期蛋白依赖性蛋白激酶5基因突变相关癫痫性脑病1例

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类细胞周期蛋白依赖性蛋白激酶5(cyclin dependent kinase-like 5,CDKL5)基因突变相关的早发癫痫性脑病近年来屡见报道,但国内相关报道较少。本文就1例诊断明确的CDKL5基因突变相关的早发癫痫性脑病患儿临床过程报告如下并总结其临床特点。1临床资料患儿女,1岁8个月。因“反复抽搐1年2个月”于2014-09-02在福建省泉州市儿童医院小儿神经科入 In recent years, many reports of early-onset epileptic encephalopathy associated with cyclin dependent kinase-like 5 (CDKL5) gene mutation have been reported, but few reports have been reported in China. This article on a case of diagnosed CDKL5 mutations associated with early clinical reports of epileptic encephalopathy in children is as follows and summarizes its clinical features. 1 clinical data Children, 1 year and 8 months. Because of “repeated convulsions 1 year 2 months ” 2014-09-02 Children’s Hospital of Quanzhou, Fujian pediatric neurology into
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