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
Painful muscle stiffness with markedly elevated serum creatine kinase (CK) levels after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC).
Kinoshita M et al.
Journal of Neuromuscular Diseases, 2025
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 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
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.
Pedersen JJ et al.
Scientific Reports, 2023
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
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
Buprenorphine may be effective for treatment of paramyotonia congenita.
Ravaglia S et al.
Muscle & Nerve, 2021
Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients.
Brenes O et al.
Cells, 2021
Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.
Huang CW et al.
Biomedicines, 2021
Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation.
Nathan S et al.
The Journal of General Physiology, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Cou Cou, flying fish and a whole exome please... lessons learned from genetic testing in Barbados.
Scantlebury MH et al.
The Pan African Medical Journal, 2021
Paramyotonia Congenita with Persistent Distal and Facial Muscle Weakness: A Case Report with Literature Review.
Taminato T et al.
Journal of Neuromuscular Diseases, 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
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
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate.
Farinato A et al.
Pharmacological Research, 2019
Clinical electrophysiology of muscle diseases and episodic muscle disorders.
Fournier E et al.
Handbook of Clinical Neurology, 2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Successful long-term therapy with flecainide in a family with paramyotonia congenita.
Terracciano C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Structure of the human voltage-gated sodium channel Nav1.4 in complex with β1.
Pan X et al.
Science (new York, N.y.), 2018
Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
Männikkö R et al.
Lancet (london, England), 2018
In vivo assessment of muscle membrane properties in the sodium channel myotonias.
Tan SV et al.
Muscle & Nerve, 2018
Sodium Channelopathies of Skeletal Muscle.
Cannon SC
Handbook of Experimental Pharmacology, 2018
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 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
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
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Myotonic discharges discriminate chloride from sodium muscle channelopathies.
Drost G et al.
Neuromuscular Disorders : Nmd, 2015
Mutations in SCN4A: a rare but treatable cause of recurrent life-threatening laryngospasm.
Singh RR et al.
Pediatrics, 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
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.
Statland JM et al.
Continuum (minneapolis, Minn.), 2013
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
The diagnosis and treatment of myotonic disorders.
Heatwole CR et al.
Muscle & Nerve, 2013
Phenotypic heterogeneity in skeletal muscle sodium channelopathies: A case report and literature review.
Saleem R et al.
Journal of Pediatric Neurosciences, 2013