Associated Papers
Novel SCN4A Variants Associated With Myalgic Myotonic Disorder or Paramyotonia.
Periviita V et al.
European Journal of Neurology, 2025
Steroid-induced hypokalemic periodic paralysis: a case report and literature review.
Tai HT et al.
Bmc Nephrology, 2023
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
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.
Elia N et al.
Neurology, 2019
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.
Poulin H et al.
Scientific Reports, 2018
Glucocorticoids may trigger attacks in several types of periodic paralysis.
Arzel-Hézode M et al.
Neuromuscular Disorders : Nmd, 2009
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
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