Associated Papers
A retrospective study of accuracy and usefulness of electrophysiological exercise tests.
Periviita V et al.
Journal of Neurology, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf
Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype.
Berghold VM et al.
Frontiers in Pediatrics, 2022
36090556 (PubMed )
Supplement: Table_1.pdf
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.
Elia N et al.
Neurology, 2019
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
A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.
Bissay V et al.
Journal of the Neurological Sciences, 2011
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