Associated Papers
Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P.
Wang FC et al.
Frontiers in Physiology, 2025
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
36007526 (PubMed )
Supplement: mmc2.xlsx › Table_S8
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.
Cavalli M et al.
Frontiers in Neurology, 2018
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay V et al.
European Journal of Human Genetics : Ejhg, 2016
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
Heidari MM et al.
Iranian Journal of Neurology, 2015
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
Charles G et al.
Journal of Neurology, 2013
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Morrow JM et al.
Neuromuscular Disorders : Nmd, 2013
Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
Bissay V et al.
Neuromuscular Disorders : Nmd, 2011
Sodium and chloride channelopathies with myositis: coincidence or connection?
Matthews E et al.
Muscle & Nerve, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E et al.
Neurology, 2008
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