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
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Franklin JP et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
Novel Mutations in SCN4A Gene Cause Myotonia Congenita with Scoliosis.
Xu YQ et al.
Chinese Medical Journal, 2018
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Chung KW et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
Desaphy JF et al.
Neurology, 2016
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
Charles G et al.
Journal of Neurology, 2013
The spectrum of myotonic and myopathic disorders in a pediatric electromyography laboratory over 12 years.
Shah DU et al.
Pediatric Neurology, 2012
Diagnosis and new treatment in muscle channelopathies.
Meola G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
Hsu WC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
K-aggravated myotonia mutations at residue G1306 differentially alter deactivation gating of human skeletal muscle sodium channels.
Groome JR et al.
Cellular and Molecular Neurobiology, 2005
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
A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.
Bouhours M et al.
The Journal of Physiology, 2005
Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.
Mohammadi B et al.
Pharmacogenetics and Genomics, 2005
Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.
Jurkat-Rott K et al.
Neurology, 2004
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
Channelopathies: ion channel defects linked to heritable clinical disorders.
Felix R
Journal of Medical Genetics, 2000
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Sugiura Y et al.
Neurology, 2000
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.
Bendahhou S et al.
The Journal of Physiology, 1999
Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.
Takahashi MP et al.
Biophysical Journal, 1999
Human sodium channel gating defects caused by missense mutations in S6 segments associated with myotonia: S804F and V1293I.
Green DS et al.
The Journal of Physiology, 1998
The familial periodic paralyses and nondystrophic myotonias.
Ptácek L
The American Journal of Medicine, 1998
Inactivation and secondary structure in the D4/S4-5 region of the SkM1 sodium channel.
Filatov GN et al.
The Journal of General Physiology, 1998
Functional expression of the Ile693Thr Na+ channel mutation associated with paramyotonia congenita in a human cell line.
Plassart-Schiess E et al.
The Journal of Physiology, 1998
Diseases caused by voltage-gated ion channels.
Fontaine B et al.
Molecular Aspects of Medicine, 1997
Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.
Richmond JE et al.
Biophysical Journal, 1997
Phenotype variation and newcomers in ion channel disorders.
Bulman DE
Human Molecular Genetics, 1997
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995