Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation-Reference-Cited by-同舟云学术

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Effectiveness of levetiracetam in an acetazolamide-unresponsive patient with episodic ataxia type 2 by a novel CACNA1A nonsense mutation

Published:2017-06-23 Issue:7 Volume:24 Page:e43-e44
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Lee H.¹,Jang D.-H.²,Jang J.-H.³,Kim T.⁴^ORCID

Affiliation:

1. Department of Neurology; Seoul St Mary's Hospital; Catholic University of Korea; Seoul Korea

2. Department of Rehabilitation Medicine; Incheon St Mary's Hospital; Catholic University of Korea; Incheon Korea

3. Green Cross Laboratories; Green Cross Genome; Yongin Korea

4. Department of Neurology; Incheon St Mary's Hospital; Catholic University of Korea; Incheon Korea

Funder

Clinical Research Laboratory

Incheon St Mary's Hospital

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13327/fullpdf

Reference3 articles.

1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

2. Identification of subtypes of muscarinic receptors that regulate Ca2+ and K+ channel activity in sympathetic neurons;Shapiro;Life Sci,2001

3. Episodic ataxia type 2;Strupp;Neurotherapeutics,2007

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches;Tremor and Other Hyperkinetic Movements;2023

2. The efficacy of combining topiramate and 4-aminopyridine to reduce relapses and interictal progression in two cases of episodic ataxia type 2;Neurological Sciences;2022-05-20

3. Efficacy of levetiracetam in patients with episodic ataxia type 2 caused by CACNA1A mutation: three case reports;Neurological Sciences;2021-06-03

4. Episodic Ataxias;Paroxysmal Movement Disorders;2020-11-19

5. Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias;International Journal of Molecular Sciences;2020-05-20

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