Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2014, Vol. 14 ›› Issue (6): 471-478. doi: 10.3969/j.issn.1672-6731.2014.06.003

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Genetic diagnosis and treatment progress of primary periodic paralysis

KE Qing   

  1. Department of Neurology, the First Affiliated Hospital of School of Medicine, Zhejiang University, Hangzhou 310003, Zhejiang, China
  • Online:2014-06-25 Published:2014-06-04
  • Contact: KE Qing(Email: keqing2003@126.com)
  • Supported by:

    Project (No. 2013R10051), Health Department of Zhejiang Province Science and Technology Plan Project (No. 2013KYA074) and Education Department of Zhejiang Province Scientific Research Project (No. Y201223831).

原发性周期性麻痹基因诊断与治疗进展

柯青   

  1. 310003 杭州,浙江大学医学院附属第一医院神经内科
  • 通讯作者: 柯青(Email:keqing2003@126.com)
  • 基金资助:

    浙江省科学技术厅钱江人才计划项目(项目编号:2013R10051);浙江省卫生厅医药卫生科技计划项目(项目编号:2013KYA074);浙江省教育厅科研项目(项目编号:Y201223831)

Abstract: Primary periodic paralysis is autosomal dominant genetic skeletal muscle ion channelopathy. It is characterized by episodes of muscle weakness associated with lower, normal or elevated serum potassium. The genetic diagnosis process of periodic paralysis is proposed based on the latest research progress and clinical classifications. Advances in therapy also are reviewed in this study.

Key words: Paralyses, familial periodic, Ion channels, Review

摘要: 原发性周期性麻痹为常染色体显性遗传性骨骼肌离子通道病,以发作性肌无力为主要临床特征,伴血钾降低、正常或升高。本文根据近年来有关周期性麻痹研究进展,结合临床分型,提出原发性周期性麻痹的基因诊断策略和流程,并对治疗的最新进展进行回顾。

关键词: 麻痹, 家族周期性, 离子通道, 综述