Associated Papers
Genetic analysis of a family with skeletal muscle ion channelopathy and hereditary spastic paraplegia type 7 caused by SCN4A and SPG7 double mutations.
Yu HP et al.
Gene, 2025
Muscle Channelopathies and Rhabdomyolysis.
Kushlaf H
Continuum (minneapolis, Minn.), 2025
Molecular genetics of skeletal muscle channelopathies.
Kubota T et al.
Journal of Human Genetics, 2025
Domain specific phenotypic expansion associated with variants in MACF1.
Gogate N et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
Functional effects of drugs and toxins interacting with NaV1.4.
Zou X et al.
Frontiers in Pharmacology, 2024
Muscle MRI in periodic paralysis shows myopathy is common and correlates with intramuscular fat accumulation.
Vivekanandam V et al.
Muscle & Nerve, 2023
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 panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Yuan JH et al.
Frontiers in Neurology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Shibano M et al.
Muscle & Nerve, 2022
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Wang Q et al.
Channels (austin, Tex.), 2021
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 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
Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing.
Tan X et al.
The Journal of International Medical Research, 2020
A new clinical entity in T704M mutation in periodic paralysis.
Gun Bilgic D et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020
Hyperkalemic periodic paralysis aggravated by voltage - gate sodium channel blocker antiepileptic drug?
Zukić S et al.
Medical Hypotheses, 2020
"Status myotonicus" in Nav1.4-M1592V channelopathy.
Rempe T et al.
Neuromuscular Disorders : Nmd, 2020
In vivo assessment of interictal sarcolemmal membrane properties in hypokalaemic and hyperkalaemic periodic paralysis.
Tan SV et al.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 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
Overlap of periodic paralysis and paramyotonia congenita caused by SCN4A gene mutations two family reports and literature review.
Huang S et al.
Channels (austin, Tex.), 2019
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.
Luo S et al.
Bmc Neurology, 2019
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
Increased Resurgent Sodium Currents in Nav1.8 Contribute to Nociceptive Sensory Neuron Hyperexcitability Associated with Peripheral Neuropathies.
Xiao Y et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
Clinical electrophysiology of muscle diseases and episodic muscle disorders.
Fournier E et al.
Handbook of Clinical Neurology, 2019
SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.
Shi J et al.
Frontiers in Neurology, 2019
[A case of hyperkalemic periodic paralysis presenting progressive myopathy with tubular aggregates].
Yoshimura K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2018
Successful treatment of normokalemic periodic paralysis with hydrochlorothiazide.
Akaba Y et al.
Brain & Development, 2018
Lower-extremity magnetic resonance imaging in patients with hyperkalemic periodic paralysis carrying the SCN4A mutation T704M: 30-month follow-up of seven patients.
Jeong HN et al.
Neuromuscular Disorders : Nmd, 2018
Sodium Channelopathies of Skeletal Muscle.
Cannon SC
Handbook of Experimental Pharmacology, 2018
Familial Normokalemic Periodic Paralysis Associated With Mutation in the SCN4A p.M1592V.
Fu C et al.
Frontiers in Neurology, 2018
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
Effects of S906T polymorphism on the severity of a novel borderline mutation I692M in Nav 1.4 cause periodic paralysis.
Fan C et al.
Clinical Genetics, 2017
Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.
Huang W et al.
Protein & Cell, 2017
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Chung KW et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Influences of Pregnancy on Different Genetic Subtypes of Non-Dystrophic Myotonia and Periodic Paralysis.
Rudnik-Schöneborn S et al.
Gynecologic and Obstetric Investigation, 2016
Physiological basis for muscle stiffness and weakness in a knock-in M1592V mouse model of hyperkalemic periodic paralysis.
Khogali S et al.
Physiological Reports, 2015
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
Whole-Body Muscle MRI in Patients with Hyperkalemic Periodic Paralysis Carrying the SCN4A Mutation T704M: Evidence for Chronic Progressive Myopathy with Selective Muscle Involvement.
Lee YH et al.
Journal of Clinical Neurology (seoul, Korea), 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015