Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita

Abstract Myotonia and paramyotonia congenita (PC) are rare neuromuscular disorders characterized by muscle stiffness that intensifies in cold environments. These disorders are associated with variants in the SCN4A gene, that encodes the alpha subunit of the voltage-gated sodium channel Nav1.4. We re...

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Autors principals:	Quentin Plumereau, Spencer Lile, Christopher N. Johnson, Mohamed Chahine
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2025-09-01
Col·lecció:	Scientific Reports
Matèries:	Myotonia Paramyotonia congenita NaV1.4 channels Voltage-gated sodium channels Variants Electrophysiology
Accés en línia:	https://doi.org/10.1038/s41598-025-17816-2
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