Associated Papers
Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita.
Plumereau Q et al.
Scientific Reports, 2025
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Yuan JH et al.
Frontiers in Neurology, 2023
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
The diagnosis and treatment of myotonic disorders.
Heatwole CR et al.
Muscle & Nerve, 2013
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Tan SV et al.
Annals of Neurology, 2011
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Dupré N et al.
Neuromuscular Disorders : Nmd, 2009
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