Associated Papers
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation.
Thor MG et al.
Scientific Reports, 2019
Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.
Myshkin MY et al.
Frontiers in Pharmacology, 2019
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Kokunai Y et al.
Scientific Reports, 2018
Spider toxin inhibits gating pore currents underlying periodic paralysis.
Männikkö R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
29636418 (PubMed )
Supplement: pnas.201720185SI.pdf
Pathophysiological role of omega pore current in channelopathies.
Jurkat-Rott K et al.
Frontiers in Pharmacology, 2012
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