Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P

Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P

IntroductionOur aims were to provide an integrated clinical and biophysical characterization of the rare variant NM_000334.4(SCN4A) c.4307T>C (p.Leu1436Pro; L1436P), affecting the skeletal muscle sodium channel Nav1.4, and to compare its functional consequences with both wild-type (WT) channe...

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Main Authors: François Charles Wang, Olivier Bouquiaux, Isabelle Lievens, Bernard Lakaye, Laura Vandries, Margaux Poleur, Samira Abdou Ide, Nurcan Inci, Vincent Seutin
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Physiology
Subjects:
case report
myotonia
paramyotonia
SCN4A gene
whole-cell patch-clamp
Online Access:https://www.frontiersin.org/articles/10.3389/fphys.2025.1617672/full
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https://www.frontiersin.org/articles/10.3389/fphys.2025.1617672/full

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