Prolonged attacks of weakness with hypokalemia in SCN4A -related paramyotonia congenita-Reference-Cited by-同舟云学术

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Prolonged attacks of weakness with hypokalemia in SCN4A -related paramyotonia congenita

Published:2018-09-03 Issue:4 Volume:58 Page:E27-E28
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

van Osch Tim¹,Stunnenberg Bas C.²,Sternberg Damien³,Kerklaan Bertjan J.¹

Affiliation:

1. Departments of Neurology OLVG; OLVG West, Jan Tooropstraat 164, 1061 AE, Amsterdam and Zaans Medisch Centrum; Zaandam the Netherlands

2. Radboud University Nijmegen Medical Center; Nijmegen the Netherlands

3. Assistance Publique Hôpitaux de Paris, Service de Biochimie, Hôpital Pitié-Salpêtrière; Paris France

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.26190/fullpdf

Reference14 articles.

1. Channelpathies of skeletal muscle excitability;Cannon;Compr Physiol,2015

2. Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing;Li;Genom Data,2015

3. Molecular and genetic characterisation of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families;Meyer-Kleine;Hum Genet,1994

4. Prevalence study of genetically defined skeletal muscle channelopathies in England;Horga;Neurology,2013

5. A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies;Kim;J Korean Med Sci,2002

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1. Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature;World Journal of Clinical Cases;2024-01-26

2. Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine;Journal of Neuromuscular Diseases;2021-05-13

3. The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers;European Journal of Neurology;2020-10-25

4. Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review;Journal of Neuromuscular Diseases;2020-03-20

5. Approach to Muscle and Neuromuscular Junction Disorders;CONTINUUM: Lifelong Learning in Neurology;2019-12

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