Associated Papers
Structural basis for the rescue of hyperexcitable cells by the amyotrophic lateral sclerosis drug Riluzole.
Hollingworth D et al.
Nature Communications, 2024
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
Functional effects of drugs and toxins interacting with NaV1.4.
Zou X et al.
Frontiers in Pharmacology, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
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
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
Cannabidiol inhibits the skeletal muscle Nav1.4 by blocking its pore and by altering membrane elasticity.
Ghovanloo MR 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
Up-regulation of voltage-gated sodium channels by peptides mimicking S4-S5 linkers reveals a variation of the ligand-receptor mechanism.
Malak OA et al.
Scientific Reports, 2020
Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.
van Osch T et al.
Muscle & Nerve, 2018
A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels.
Ghovanloo MR et al.
Scientific Reports, 2018
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.
Xu YQ et al.
Chinese Medical Journal, 2018
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
Effects of acidosis on neuronal voltage-gated sodium channels: Nav1.1 and Nav1.3.
Ghovanloo MR et al.
Channels (austin, Tex.), 2018
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
Benhammou JN et al.
Journal of Molecular Neuroscience : Mn, 2017
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
Desaphy JF et al.
Neurology, 2016
Myotonic discharges discriminate chloride from sodium muscle channelopathies.
Drost G et al.
Neuromuscular Disorders : Nmd, 2015
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
Zhao J et al.
The Journal of Physiology, 2012
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Modoni A et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Cold-induced disruption of Na+ channel slow inactivation underlies paralysis in highly thermosensitive paramyotonia.
Carle T et al.
The Journal of Physiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
Trip J et al.
European Journal of Human Genetics : Ejhg, 2008
The primary periodic paralyses: diagnosis, pathogenesis and treatment.
Venance SL et al.
Brain : a Journal of Neurology, 2006
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
Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.
Sugiura Y et al.
Neurology, 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Sugiura Y et al.
Neurology, 2000
A hot topic: temperature sensitive sodium channelopathies.
Egri C et al.
Channels (austin, Tex.), 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0