Associated Papers
Novel compound heterozygous mutations in SCN4A as a potential genetic cause contributing to myopathic manifestations: A case report and literature review.
Han JY et al.
Heliyon, 2024
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 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
Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.
Meyer AP et al.
Frontiers in Neurology, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
Maggi L et al.
Frontiers in Neurology, 2020
Clinico-Genotypic Correlation: Recurrent Attacks of Paralysis and Skeletal Muscle SCN4A Mutation (p.Ile693Thr).
Nanda S et al.
Journal of Clinical Neuromuscular Disease, 2019
[Analysis of SCN4A gene variation in a Chinese pedigree affected with skeletal muscle sodium channelopathies].
Lu Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
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
NMR investigation of the isolated second voltage-sensing domain of human Nav1.4 channel.
Paramonov AS et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
When all is lost…a severe myopathy with hypotonia from sodium channel mutations.
Cannon SC
Brain : a Journal of Neurology, 2016
Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
Mankodi A et al.
Neuromuscular Disorders : Nmd, 2015
Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
Yoshinaga H et al.
Pediatric Neurology, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Furby A et al.
Neuromuscular Disorders : Nmd, 2014
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
Charles G et al.
Journal of Neurology, 2013
The diagnosis and treatment of myotonic disorders.
Heatwole CR et al.
Muscle & Nerve, 2013
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Horga A et al.
Neurology, 2013
Muscle channelopathies and related diseases.
Fontaine B
Handbook of Clinical Neurology, 2013
Normokalemic periodic paralysis is not a distinct disease.
Song YW et al.
Muscle & Nerve, 2012
A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
Yoshinaga H et al.
Journal of the Neurological Sciences, 2012
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.
Matthews E et al.
Brain : a Journal of Neurology, 2010
Clinical Diversity of SCN4A-Mutation-Associated Skeletal Muscle Sodium Channelopathy.
Lee SC et al.
Journal of Clinical Neurology (seoul, Korea), 2009
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
Wu L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene.
Feng Y et al.
Chinese Medical Journal, 2008
Hyperkalaemia in a tetraplegic adolescent due to de novo sodium channel mutation.
Grgic I et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis.
Jurkat-Rott K et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Temperature dependence of erythromelalgia mutation L858F in sodium channel Nav1.7.
Han C et al.
Molecular Pain, 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
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
Electromyography guides toward subgroups of mutations in muscle channelopathies.
Fournier E et al.
Annals of Neurology, 2004
Electrophysiological properties of mutant Nav1.7 sodium channels in a painful inherited neuropathy.
Cummins TR et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Brancati F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2003
Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Kinoshita M et al.
Internal Medicine (tokyo, Japan), 2003
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.
Bendahhou S et al.
Neurology, 2002
Slow inactivation in voltage-gated sodium channels: molecular substrates and contributions to channelopathies.
Vilin YY et al.
Cell Biochemistry and Biophysics, 2001
Channelopathies: ion channel defects linked to heritable clinical disorders.
Felix R
Journal of Medical Genetics, 2000
Spectrum of sodium channel disturbances in the nondystrophic myotonias and periodic paralyses.
Cannon SC
Kidney International, 2000
Spectrum of inherited myotonias and periodic paralyses.
Al-Tahan AY
Saudi Medical Journal, 1999
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
Bendahhou S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
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