Abstract: In recent years， the comorbidity of epilepsy and motor disorders has gradually attracted the attention of neurologists. Among them， ion channel disease is an important cause. KCNMA1 gene is a potassium channel coding gene. The phenotype spectrum of nervous system disease related to KCNMA1 variation includes paroxysmal non-kinesigenic dyskinesia and/or epilepsy. The purpose of this paper is to systematically summarize the phenotype spectrum and treatment of nervous system disease related to KCNMA1 gene variation， so as to guide clinical work.

Key words: epilepsy, ion channelopathy, KCNMA1 gene

摘要： 近年来，癫痫与运动障碍共患逐渐受到神经科医生的关注。其中离子通道病是其重要病因。KCNMA1基因为钾离子通道编码基因，KCNMA1变异相关神经系统疾病表型谱包括阵发性非运动诱发性运动障碍和（或）癫痫。文章旨在针对KCNMA1基因变异相关神经系统疾病表型谱及治疗进行系统总结，以指导临床工作。

关键词: 癫痫, 离子通道病, KCNMA1基因