A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia

A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia

Petitprez, S.; Tiab, L.; Chen, L.; Kappeler, L.; Roesler, K. M.; Schorderet, D.; Abriel, H.; Burgunder, J. -M.

2008

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Abstract

Background: Mutations in SCN4A may lead to myotonia.

Details

Title A novel dominant mutation of the Na(v)1.4 alpha-subunit domain I leading to sodium channel myotonia

Author(s) Petitprez, S. ; Tiab, L. ; Chen, L. ; Kappeler, L. ; Roesler, K. M. ; Schorderet, D. ; Abriel, H. ; Burgunder, J. -M.

Published in Neurology

Volume 71

Pages 1669-1675

Date 2008

Keywords

Hyperkalemic Periodic Paralysis; Muscle Chloride Channel; Slow Inactivation; Paramyotonia-Congenita; Skeletal-Muscle; Allelic Heterogeneity; Channelopathies; Sensitivity; Disease; Cic-1

DOI https://doi.org/10.1212/01.wnl.0000335168.86248.55

Other identifier(s) View record in Web of Science

Laboratories SV

Record Appears in Scientific production and competences > Unattributed publications > SV - SV - Unattributed publications
Scientific production and competences > SV - School of Life Sciences > SV - Unattributed publications
Peer-reviewed publications
Work produced at EPFL
Journal Articles
Published

Record creation date 2010-11-30