中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (7): 541-544.DOI: 10.19538/j.ek2023070613

• 综述 • 上一篇    下一篇

KCNMA1基因相关神经系统疾病表型谱及治疗研究进展

  

  1. 国家儿童医学中心 首都医科大学附属北京儿童医院神经中心 神经内科，北京  100045
  • 出版日期:2023-07-06 发布日期:2023-08-29
  • 通讯作者: 丁昌红，电子信箱：13641290689@163.com
  • 基金资助:
    中国抗癫痫协会癫痫科研基金项目（CU-2022-018）

Research progress in phenotypes and treatments of KCNMA1-related neurological disorders

  1. Department of Neurology，Neurological Center，Beijing Children's Hospital， Capital Medical University， National Center for Children's Health，Beijing  100045，China
  • Online:2023-07-06 Published:2023-08-29

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

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