Associated Papers
Molecular genetics of skeletal muscle channelopathies.
Kubota T et al.
Journal of Human Genetics, 2025
Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic.
Marsili L et al.
Biomedicines, 2024
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
A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Campanale C et al.
Journal of Neuromuscular Diseases, 2024
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
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
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Myotonia congenita: mutation spectrum of CLCN1 in Spanish patients.
Milla CP et al.
Journal of Genetics, 2019
Clinical electrophysiology of muscle diseases and episodic muscle disorders.
Fournier E et al.
Handbook of Clinical Neurology, 2019
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Kokunai Y et al.
Scientific Reports, 2018
In vivo assessment of muscle membrane properties in the sodium channel myotonias.
Tan SV et al.
Muscle & Nerve, 2018
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
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
Mutation analysis in exons 22 and 24 of SCN4A gene in Iranian patients with non-dystrophic myotonia.
Heidari MM et al.
Iranian Journal of Neurology, 2015
Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
Torbergsen T et al.
Muscle & Nerve, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 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
Muscle channelopathies: recent advances in genetics, pathophysiology and therapy.
Suetterlin K et al.
Current Opinion in Neurology, 2014
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
Charles G et al.
Journal of Neurology, 2013
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Morrow JM et al.
Neuromuscular Disorders : Nmd, 2013
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR et al.
Brain : a Journal of Neurology, 2013
Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
Zhao J et al.
The Journal of Physiology, 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
Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
Mazón MJ et al.
Neuromuscular Disorders : Nmd, 2012
Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.
Tan SV et al.
Annals of Neurology, 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
New mutation of the Na channel in the severe form of potassium-aggravated myotonia.
Kubota T et al.
Muscle & Nerve, 2009
Diagnosis and new treatment in muscle channelopathies.
Meola G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
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
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
Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.
Kim J et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2001
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF et al.
Neurology, 2001
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