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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.

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本文引用的文献

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Episodic Ataxias: Clinical and Genetic Features.
J Mov Disord. 2016 Sep;9(3):129-35. doi: 10.14802/jmd.16028. Epub 2016 Sep 21.
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Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.
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.
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.
Mayo Clin Proc. 2015 Mar;90(3):366-71. doi: 10.1016/j.mayocp.2015.01.001. Epub 2015 Feb 3.
6
Channelopathies.
Korean J Pediatr. 2014 Jan;57(1):1-18. doi: 10.3345/kjp.2014.57.1.1. Epub 2014 Jan 31.

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