Associated Papers
Pharmacogenetic pilot study of CYP2D6 and CYP1A2 genes in Italian patients with non-dystrophic myotonia and myotonic dystrophy treated with mexiletine.
Brugnoni R et al.
Gene, 2025
Neck muscle hypertrophy in paramyotonia congenita caused by a missense variant in the SCN4A gene (p.Val445Met).
Mustafa F et al.
Acta Neurologica Belgica, 2025
High-dose flecainide for symptomatic relief in paramyotonia congenita/severe neonatal episodic laryngospasm due to SCN4A G1306E: a case report.
Ogueri V et al.
Journal of Medical Case Reports, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH et al.
Journal of Neurology, 2022
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
Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease.
Sampaio F et al.
Neuro-ophthalmology (aeolus Press), 2021
Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia.
Huang CW et al.
International Journal of Molecular Sciences, 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
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
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.
Rudnik-Schöneborn S et al.
Gynecologic and Obstetric Investigation, 2016
Phenotypic variability in childhood of skeletal muscle sodium channelopathies.
Yoshinaga H et al.
Pediatric Neurology, 2015
Myotonic discharges discriminate chloride from sodium muscle channelopathies.
Drost G et al.
Neuromuscular Disorders : Nmd, 2015
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
Liu XL et al.
Channels (austin, Tex.), 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.
Du H et al.
Eye (london, England), 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
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
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita.
Modoni A et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2011
Extraocular muscle hypertrophy in myotonia congenita: Mutation identified in the SCN4A gene (V445M).
Wakeman B et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2009
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
Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.
Trip J et al.
Journal of Neurology, 2007
Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E et al.
Annals of Neurology, 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
Preferred mexiletine block of human sodium channels with IVS4 mutations and its pH-dependence.
Mohammadi B et al.
Pharmacogenetics and Genomics, 2005
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
Mexiletine block of disease-associated mutations in S6 segments of the human skeletal muscle Na(+) channel.
Takahashi MP et al.
The Journal of Physiology, 2001
The skeletal muscle channelopathies: basic science, clinical genetics and treatment.
Davies NP et al.
Current Opinion in Neurology, 2001
A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF et al.
Neurology, 2001
New molecular determinant for inactivation of the human L-type alpha1C Ca2+ channel.
Soldatov NM et al.
The Journal of Membrane Biology, 2000
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.
Bendahhou S et al.
The Journal of Clinical Investigation, 2000
Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.
Wang DW et al.
Febs Letters, 1999
Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.
Takahashi MP et al.
Biophysical Journal, 1999
A novel muscle sodium channel mutation causes painful congenital myotonia.
Rosenfeld J et al.
Annals of Neurology, 1997
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0