Associated Papers
Piper rhythm-like electromyographical activity in muscle stiffness in sodium channel myotonia representing potassium-aggravated myotonia and myotonia permanens.
Kinoshita M et al.
Journal of Neurophysiology, 2026
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
Ca2+-dependent modulation of voltage-gated myocyte sodium channels.
Salvage SC et al.
Biochemical Society Transactions, 2021
Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.
Nathan S et al.
The Journal of General Physiology, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.
Horie R et al.
Muscle & Nerve, 2020
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
Desaphy JF et al.
Neurology, 2016
New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
Kubota T et al.
Muscle & Nerve, 2009
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