钾离子通道基因变异与进行性肌阵挛癫痫  

Potassium channel gene mutation and progressive myoclonus epilepsy

作　　者：张璇 叶静[1] ZHANG Xuan;YE Jing(Department of Neurology,Xuanwu Hospital,Capital Medical University,Beijing 100053,China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《临床神经病学杂志》2022年第3期213-216,共4页Journal of Clinical Neurology

摘　　要：进行性肌阵挛癫痫(PME)是一组临床表现相似、具有遗传异质性的癫痫综合征。PME相关突变基因与导致溶酶体、线粒体功能的异常相关。近年来发现钾离子通道基因突变也是PME致病的重要基因。目前为止报道PME的钾离子通道突变相关的基因有KCNC1、KCTD7、KCNA2,其导致的临床表现有共性又有异质性。本文讨论综述了钾离子通道基因突变相关PME的患者临床表现、遗传学、流行病学的特点,旨在为临床提供信息便于诊断。Progressive myoclonus epilepsy(PME)is a group of epilepsy syndrome with similar clinical manifestations and genetic heterogeneity.PME related mutations are associated with abnormal functions of lysosomes and mitochondria.In recent years,it has been found that potassium channel gene mutation is also an important cause of PME.So far,KCNC1,KCTD7,KCNA2 mutation-related PME have been reported,their clinical manifestations are both similar and heterogeneous.In our study,the clinical manifestations,genetic and epidemiological characteristics of patients diagnosed with potassium channel gene mutation-related PME are discussed and summarized in order to provide information for clinical diagnosis.

关 键 词：进行性肌阵挛癫痫 钾离子通道 基因变异 

分 类 号：R742.1[医药卫生—神经病学与精神病学]