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1
The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.发作性运动障碍的癫痫性和非癫痫性谱系：离子通道病、突触病和转运蛋白病。
Mov Disord. 2017 Mar;32(3):310-318. doi: 10.1002/mds.26901. Epub 2017 Jan 16.
2
Episodic Ataxias: Clinical and Genetic Features.发作性共济失调：临床与遗传学特征
J Mov Disord. 2016 Sep;9(3):129-35. doi: 10.14802/jmd.16028. Epub 2016 Sep 21.
3
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.与KCNA1突变相关的临床异质性包括猝倒和无共济失调表现。
Neurogenetics. 2016 Jan;17(1):11-6. doi: 10.1007/s10048-015-0460-2. Epub 2015 Sep 22.
4
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.发作性共济失调1型发病机制与治疗的新见解
Front Cell Neurosci. 2015 Aug 19;9:317. doi: 10.3389/fncel.2015.00317. eCollection 2015.
5
Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1.全外显子组测序作为1型发作性共济失调一家系的诊断工具
Mayo Clin Proc. 2015 Mar;90(3):366-71. doi: 10.1016/j.mayocp.2015.01.001. Epub 2015 Feb 3.
6
Channelopathies.离子通道病
Korean J Pediatr. 2014 Jan;57(1):1-18. doi: 10.3345/kjp.2014.57.1.1. Epub 2014 Jan 31.

表现为阵发性非运动诱发性运动障碍的1型发作性共济失调（钾通道病）：扩展表型

Episodic Ataxia Type 1 (K-channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype.

作者信息

Set Kallol K, Ghosh Debabrata, Huq A H M, Luat Aimee F

机构信息

Department of Pediatrics Children's Hospital of Michigan Detroit Medical Center Wayne State University School of Medicine Detroit Michigan USA.

Department of Neurology Children's Hospital of Michigan Detroit Medical Center Wayne State University School of Medicine Detroit Michigan USA.

出版信息

Mov Disord Clin Pract. 2017 Jul 31;4(5):784-786. doi: 10.1002/mdc3.12518. eCollection 2017 Sep-Oct.

DOI:10.1002/mdc3.12518
PMID:30363417
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6174441/
Abstract

http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2330-1619/homepage/mdc312518-sup-v001.htm.

摘要

http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2330-1619/homepage/mdc312518-sup-v001.htm. （此为网址，无法准确翻译为中文，保留原文形式）