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

Our study confirms that the SCN4A-L1436P mutation can give rise to a spectrum of clinical presentations. Epigenetic alterations, modifying genes or environmental factors may influence clinical expression. Our experimental data indicates a relatively milder biophysical phenotype for L1436P as compared to R1448H, which becomes more pronounced at lower temperatures, consistent with the clinical phenotype of a majority of patients.

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Publication Details

Journal
Frontiers in Physiology
Published
2025-07-24
DOI
https://doi.org/10.3389/fphys.2025.1617672
Primary Topic
Ion channel regulation and function
Type
article
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article

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

Olivier Bouquiaux, Seiya IDE, Bernard Lakaye, Isabelle Lievens et al.
Frontiers in Physiology
Ion channel regulation and function
article

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

Olivier Bouquiaux, Seiya IDE, Bernard Lakaye, Isabelle Lievens, Laura Vandries, Vincent Seutin, Nurcan Inci, Margaux Poleur, François‐Charles Wang
article en

Abstract

Our study confirms that the SCN4A-L1436P mutation can give rise to a spectrum of clinical presentations. Epigenetic alterations, modifying genes or environmental factors may influence clinical expression. Our experimental data indicates a relatively milder biophysical phenotype for L1436P as compared to R1448H, which becomes more pronounced at lower temperatures, consistent with the clinical phenotype of a majority of patients.

Frontiers in PhysiologyVol. 16
University of Liège (BE), Centre Hospitalier Universitaire de Liège (BE)
Openalex Percentile: Top 84%
Ion channel regulation and function
DOIOpen Access PDFOpenAlex
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Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P — Olivier Bouquiaux, Seiya IDE, et al. · Frontiers in Physiology (2025) | TGRS Research Map | TGRS