Associated Papers
Piper rhythm-like electromyographical activity in muscle stiffness in sodium channel myotonia representing potassium-aggravated myotonia and myotonia permanens.
Kinoshita M et al.
Journal of Neurophysiology, 2026
Molecular genetics of skeletal muscle channelopathies.
Kubota T et al.
Journal of Human Genetics, 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
Living on the Rocks: Genomic Analysis of Limestone Langurs Provides Novel Insights into the Adaptive Evolution in Extreme Karst Environments.
Liu Z et al.
Genomics, Proteomics & Bioinformatics, 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
Special electromyographic features in a child with paramyotonia congenita: A case report and review of literature.
Yi H et al.
World Journal of Clinical Cases, 2024
Functional effects of drugs and toxins interacting with NaV1.4.
Zou X et al.
Frontiers in Pharmacology, 2024
Epileptic Channelopathies and Neuromuscular Disorders in Newborns: A Narrative Review.
Almohammal MN
Cureus, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Predicting functional effects of ion channel variants using new phenotypic machine learning methods.
Boßelmann CM et al.
Plos Computational Biology, 2023
Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.
Pedersen JJ et al.
Scientific Reports, 2023
Acute myotonic reaction during succinylcholine anaesthesia.
Mohammed SR et al.
Practical Neurology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a 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
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
New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.
Xi Q et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 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
Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Avila-Smirnow D et al.
Neuromuscular Disorders : Nmd, 2020
Improving genetic diagnostics of skeletal muscle channelopathies.
Vivekanandam V et al.
Expert Review of Molecular Diagnostics, 2020
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
Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L769V Mutation in SCN4A.
Elia N et al.
Frontiers in Neurology, 2020
Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Zhao C et al.
Plos One, 2020
Sodium channel myotonia may be associated with high-risk brief resolved unexplained events.
Cea G et al.
Wellcome Open Research, 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
De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.
Pechmann A et al.
Neuromuscular Disorders : Nmd, 2019
Possible role of SCN4A skeletal muscle mutation in apnea during seizure.
Türkdoğan D et al.
Epilepsia Open, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate.
Farinato A et al.
Pharmacological Research, 2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Morales F et al.
Frontiers in Neurology, 2019
Skeletal muscle channelopathy: a new risk for sudden infant death syndrome.
Cannon SC
Lancet (london, England), 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
Flecainide-Induced Brugada Syndrome in a Patient With Skeletal Muscle Sodium Channelopathy: A Case Report With Critical Therapeutical Implications and Review of the Literature.
Cavalli M et al.
Frontiers in Neurology, 2018
Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
Maggi L et al.
Neurogenetics, 2017
Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
Lehmann-Horn F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
Flecainide-Responsive Myotonia Permanens With SNEL Onset: A New Case and Literature Review.
Portaro S et al.
Pediatrics, 2016
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.
Imbrici P et al.
Frontiers in Pharmacology, 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
Skeletal muscle sodium channelopathies.
Nicole S et al.
Current Opinion in Neurology, 2015
Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Furby A et al.
Neuromuscular Disorders : Nmd, 2014
Mutational consequences of aberrant ion channels in neurological disorders.
Kumar D et al.
The Journal of Membrane Biology, 2014
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
Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.
Caietta E et al.
Pediatrics, 2013
Muscle channelopathies and related diseases.
Fontaine B
Handbook of Clinical Neurology, 2013