Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.
Sampaio F et al.
Neuro-ophthalmology (aeolus Press), 2021
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
Zhao J et al.
The Journal of Physiology, 2012
Keeping hyperactive voltage-gated sodium channels in silent mode.
Bendahhou S
The Journal of Physiology, 2012
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Isolated eyelid closure myotonia in two families with sodium channel myotonia.
Stunnenberg BC et al.
Neurogenetics, 2010
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Dupré N et al.
Neuromuscular Disorders : Nmd, 2009
A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
Rossignol E et al.
Neurology, 2007
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