Associated Papers
Missense variants pathogenicity annotation from homologous proteins.
Ruiz-Alías G et al.
Bioinformatics (oxford, England), 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
39286500 (PubMed )
Supplement: mmc1.pdf
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
Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.
Lee MJ et al.
Biology, 2022
Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.
Huang CW et al.
Biomedicines, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
A zebrafish model of nondystrophic myotonia with sodium channelopathy.
Nam TS et al.
Neuroscience Letters, 2020
Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav 1.4 cause periodic paralysis.
Fan C et al.
Clinical Genetics, 2017
Defective fast inactivation recovery of Nav 1.4 in congenital myasthenic syndrome.
Arnold WD et al.
Annals of Neurology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Altered fast and slow inactivation of the N440K Nav1.4 mutant in a periodic paralysis syndrome.
Lossin C et al.
Neurology, 2012
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Lehmann-Horn F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011
Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.
Takahashi MP et al.
The Journal of Physiology, 2001
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0
Select a paper to view details