Associated Papers
The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.
Wang Q et al.
Frontiers in Neurology, 2022
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism.
Malak OA et al.
Scientific Reports, 2020
Pathological findings in a patient with non-dystrophic myotonia with a mutation of the SCN4A gene; a case report.
Hata T et al.
Bmc Neurology, 2019
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
Benhammou JN et al.
Journal of Molecular Neuroscience : Mn, 2017
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Yang X et al.
Channels (austin, Tex.), 2017
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
Trip J et al.
European Journal of Human Genetics : Ejhg, 2008
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