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Last Updated: 10/31/2025
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Found 115 publications
Muscle Channelopathies and Rhabdomyolysis.
Journal: Continuum (Minneapolis, Minn.)
Published: October 02, 2025
Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P.
Journal: Frontiers in physiology
Published: April 24, 2025
Pediatric neuromuscular channelopathies.
Journal: Handbook of clinical neurology
Published: August 22, 2024
Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance of SCN4A and CLCN1 Variants: A Case Report.
Journal: Neurology. Genetics
Published: July 22, 2024
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Journal: Neurogenetics
Published: March 19, 2024
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Journal: Journal of neuromuscular diseases
Published: March 01, 2024
Two cases of potassium-aggravated myotonia induced by SCN4A gene variation
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: October 29, 2023
Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in SCN4A gene: a case report.
Journal: Annals of medicine and surgery (2012)
Published: August 16, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Journal: Neuromuscular disorders : NMD
Published: November 07, 2022
Coexistence of SCN4A and CLCN1 mutations in a family with atypical myotonic features: A clinical and functional study.
Journal: Experimental neurology
Published: November 06, 2022
Last Updated: 10/31/2025