Associated Papers
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 2024
Diverse biophysical mechanisms in voltage-gated sodium channel Nav1.4 variants associated with myotonia.
Tikhonova TB et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.
Fouda MA et al.
The Journal of Physiology, 2022
Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.
Lee MJ et al.
Biology, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.
Huang CW et al.
Biomedicines, 2021
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.
Taminato T et al.
Journal of Neuromuscular Diseases, 2020
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.
Lindsay HA et al.
Genetics, 2008
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders.
Michel P et al.
Muscle & Nerve, 2007
Human skeletal muscle sodium channelopathies.
Vicart S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.
Bouhours M et al.
The Journal of Physiology, 2004
Effect of sodium channel abundance on Drosophila development, reproductive capacity and aging.
Garber G et al.
Fly, 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0