Article
Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotonia.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie - 1 Jul 2026
Frosio Anthony, Calamaio Serena, Pagliarani Serena, Cirillo Federica, Melgari Dario, Prevostini Rachele, Presti Francesca Lo, Lucchiari Sabrina, Magri Francesca, Corti Stefania, Comi Giacomo P, Anastasia Luigi, Pappone Carlo, Meola Giovanni, Rivolta Ilaria
Abstract excerpt
Non-dystrophic myotonias are rare skeletal muscle channelopathies characterized by delayed muscle relaxation and clinical stiffness. This study investigates the molecular mechanisms underlying three missense variants in SCN4A encoding for the voltage gated skeletal muscle sodium channel NaV1.4-p.K1308R, p.R1451H, and p.M1701V-identified in patients with non-dystrophic myotonia. All probands carried these variants...
Topics
- Humans
- NAV1.4 Voltage-Gated Sodium Channel
- Myotonia
- Mutation, Missense
- Endoplasmic Reticulum Stress
- Chloride Channels
- HEK293 Cells
- Mexiletine
- Female