Integrated electrophysiological, cellular, and pharmacological profiling reveals variant-specific mechanisms in SCN4A-related myotonia.

Anthony Frosio, Serena Calamaio, Serena Pagliarani, Federica Cirillo, Dario Melgari, Rachele Prevostini, Francesca Lo Presti, Sabrina Lucchiari, Francesca Magri, Stefania Corti, Giacomo P Comi, Luigi Anastasia

Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie

2026

Journal Article

Humans, NAV1.4 Voltage-Gated Sodium Channel, Myotonia, Mutation, Missense, Endoplasmic Reticulum Stress, Chloride Channels, HEK293 Cells, Mexiletine, Female, Ion Channel Gating, Male, Animals, Phenotype