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
Functional effects of drugs and toxins interacting with NaV1.4.
Zou X et al.
Frontiers in Pharmacology, 2024
The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels.
Van Poucke M et al.
Animal Genetics, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
A Comprehensive Analysis of Cutaneous Melanoma Patients in Greece Based on Multi-Omic Data.
Kontogianni G et al.
Cancers, 2023
Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.
Lee MJ et al.
Biology, 2022
Buprenorphine may be effective for treatment of paramyotonia congenita.
Ravaglia S et al.
Muscle & Nerve, 2021
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.
Huang CW et al.
Biomedicines, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
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
Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families.
Cibulcik F et al.
Biomedical Papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia, 2019
Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.
Huang S et al.
Channels (austin, Tex.), 2019
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP et al.
Journal of Genetics, 2019
Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.
Elia N et al.
Neurology, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.
van Osch T et al.
Muscle & Nerve, 2018
NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.
Bayless-Edwards L et al.
Scientific Reports, 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
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.
Cavalli M et al.
Frontiers in Neurology, 2018
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Yang X et al.
Channels (austin, Tex.), 2017
SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
Bissay V et al.
European Journal of Human Genetics : Ejhg, 2016
Imaging alterations in skeletal muscle channelopathies: a study in 15 patients.
Maggi L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2015
Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing.
Li J et al.
Genomics Data, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.
Suetterlin K et al.
Current Opinion in Neurology, 2014
A gating model for wildtype and R1448H Nav1.4 channels in paramyotonia.
Holzherr B et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2014
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
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
Charles G et al.
Journal of Neurology, 2013
Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review.
Saleem R et al.
Journal of Pediatric Neurosciences, 2013
Prevalence study of genetically defined skeletal muscle channelopathies in England.
Horga A et al.
Neurology, 2013
Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Nurputra DK et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Mazón MJ et al.
Neuromuscular Disorders : Nmd, 2012
Novel insights into the pathomechanisms of skeletal muscle channelopathies.
Burge JA et al.
Current Neurology and Neuroscience Reports, 2012
A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.
Lehmann-Horn F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
Park JH et al.
The Neurologist, 2010
Homozygosity for dominant mutations increases severity of muscle channelopathies.
Arzel-Hézode M et al.
Muscle & Nerve, 2010
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E et al.
Neurology, 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
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E et al.
Neurology, 2008
[Eulenburg's paramyotonia congenita].
Sallansonnet-Froment M et al.
Revue Neurologique, 2007
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
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E et al.
Annals of Neurology, 2006