Associated Papers
Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutation SCN4A L1436P.
Wang FC et al.
Frontiers in Physiology, 2025
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
Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.
Lee MJ et al.
Biology, 2022
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Kruijt N et al.
European 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, myopathological and genetic features of two Chinese families with paramyotonia congenita].
Song J et al.
Zhonghua Nei Ke Za Zhi, 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
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
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.
van Osch T et al.
Muscle & Nerve, 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
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A et al.
Pediatric Nephrology (berlin, Germany), 2017
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 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
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
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Habbout K et al.
Neurology, 2016
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
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR et al.
Brain : a 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
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
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
Sodium channelopathies of skeletal muscle result from gain or loss of function.
Jurkat-Rott K et al.
Pflugers Archiv : European Journal of Physiology, 2010
The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.
Lindsay HA et al.
Genetics, 2008
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
What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.
Matthews E et al.
Neurology, 2008
Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders.
Michel P et al.
Muscle & Nerve, 2007
Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias.
Ryan AM et al.
Current Opinion in Neurology, 2007
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E et al.
Annals of Neurology, 2006
Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation.
Hsu WC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006
A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
Ferriby D et al.
Neuromuscular Disorders : Nmd, 2006
Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy.
Vanoye CG et al.
The Journal of General Physiology, 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
Muscle channelopathies and critical points in functional and genetic studies.
Jurkat-Rott K et al.
The Journal of Clinical Investigation, 2005
Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.
Mohammadi B et al.
Pharmacogenetics and Genomics, 2005
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S et al.
Neurology, 2004
Temperature-sensitive defects in paramyotonia congenita mutants R1448C and T1313M.
Dice MS et al.
Muscle & Nerve, 2004
Treatment in myotonia and periodic paralysis.
Meola G et al.
Revue Neurologique, 2004
Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Kinoshita M et al.
Internal Medicine (tokyo, Japan), 2003
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
Kim DS et al.
Journal of Korean Medical Science, 2002