Associated Papers
Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
Han JY et al.
Heliyon, 2024
SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review.
Chan TY et al.
Heliyon, 2024
Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels.
Ahangar AA et al.
Biorxiv : the Preprint Server for Biology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype.
Berghold VM et al.
Frontiers in Pediatrics, 2022
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Contractile properties are impaired in congenital myopathies.
Eisum AV et al.
Neuromuscular Disorders : Nmd, 2020
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
Whole-exome sequencing identified mutational profiles of high-grade colon adenomas.
Lee SH et al.
Oncotarget, 2017
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT et al.
Brain : a Journal of Neurology, 2016
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Biophysics, pathophysiology, and pharmacology of ion channel gating pores.
Moreau A et al.
Frontiers in Pharmacology, 2014
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
Lee SC et al.
Journal of Clinical Neurology (seoul, Korea), 2009