Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Secondary findings in 443 exome sequencing data.
Branković M et al.
Annals of Human Genetics, 2025
Diverse biophysical mechanisms in voltage-gated sodium channel Nav1.4 variants associated with myotonia.
Tikhonova TB et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
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
Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.
Nan H et al.
Bmc Neurology, 2022
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Kruijt N et al.
European 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
Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster.
Takai A et al.
International Journal of Molecular Sciences, 2020
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 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
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP et al.
Journal of Genetics, 2019
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 Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Chung KW et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Model systems for studying cellular mechanisms of SCN1A-related epilepsy.
Schutte SS et al.
Journal of Neurophysiology, 2016
Myotonic discharges discriminate chloride from sodium muscle channelopathies.
Drost G et al.
Neuromuscular Disorders : Nmd, 2015
Mutational consequences of aberrant ion channels in neurological disorders.
Kumar D et al.
The Journal of Membrane Biology, 2014
Genotype phenotype associations across the voltage-gated sodium channel family.
Brunklaus A et al.
Journal of Medical Genetics, 2014
A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.
Sun L et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
Bissay V et al.
Neuromuscular Disorders : Nmd, 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
A case of paramyotonia congenita without periodic paralysis: electrophysiological and molecular genetic studies.
Park JH et al.
The Neurologist, 2010
Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Dupré N et al.
Neuromuscular Disorders : Nmd, 2009
New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
Kubota T et al.
Muscle & Nerve, 2009
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
Reduced muscle-fiber conduction but normal slowing after cold exposure in paramyotonia congenita.
Blijham PJ et al.
Muscle & Nerve, 2008
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E et al.
Annals of Neurology, 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
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
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
Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels.
Moran O et al.
Journal of Bioenergetics and Biomembranes, 1999
The familial periodic paralyses and nondystrophic myotonias.
Ptácek L
The American Journal of Medicine, 1998
Phenotype variation and newcomers in ion channel disorders.
Bulman DE
Human Molecular Genetics, 1997
Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.
Hayward LJ et al.
The Journal of General Physiology, 1996
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.
Plassart E et al.
European Journal of Human Genetics : Ejhg, 1994
Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4-6 October 1992, Ulm, Germany.
Lehmann-Horn F et al.
Neuromuscular Disorders : Nmd, 1993
Effect of sodium channel abundance on Drosophila development, reproductive capacity and aging.
Garber G et al.
Fly, 0
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0