Associated Papers
Discovery and Treatment of Action Potential-Independent Myotonia in Hyperkalemic Periodic Paralysis.
Dupont C et al.
Annals of Clinical and Translational Neurology, 2025
Molecular genetics of skeletal muscle channelopathies.
Kubota T et al.
Journal of Human Genetics, 2025
Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.
Akbari Ahangar A et al.
Iscience, 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
Genetic analysis of 37 cases with primary periodic paralysis in Chinese patients.
Zhao X et al.
Orphanet Journal of Rare Diseases, 2024
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan.
Yuan JH et al.
Frontiers in Neurology, 2023
Periodic paralysis due to cumulative effects of rare variants in SCN4A with small functional alterations.
Shibano M et al.
Muscle & Nerve, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
A novel missense variant of SCN4A co-segregates with congenital essential tremor in a consanguineous Kurdish family.
Asif M et al.
American Journal of Medical Genetics. Part A, 2022
Ca2+-dependent modulation of voltage-gated myocyte sodium channels.
Salvage SC et al.
Biochemical Society Transactions, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
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
"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
A zebrafish model of nondystrophic myotonia with sodium channelopathy.
Nam TS et al.
Neuroscience Letters, 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
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.
Luo S et al.
Bmc Neurology, 2019
Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis.
Mi W et al.
The Journal of General Physiology, 2019
SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.
Shi J et al.
Frontiers in Neurology, 2019
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
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 2017
Targeted deletion of Kcne3 impairs skeletal muscle function in mice.
King EC et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Chung KW et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.
Wu F et al.
Brain : a Journal of Neurology, 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
Divalent cation-responsive myotonia and muscle paralysis in skeletal muscle sodium channelopathy.
Mankodi A et al.
Neuromuscular Disorders : Nmd, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Corrochano S et al.
Brain : a Journal of Neurology, 2014
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
Wu L et al.
Cellular and Molecular Neurobiology, 2014
Contractile abnormalities of mouse muscles expressing hyperkalemic periodic paralysis mutant NaV1.4 channels do not correlate with Na+ influx or channel content.
Lucas B et al.
Physiological Genomics, 2014
[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].
Shiga K et al.
Rinsho Shinkeigaku = Clinical Neurology, 2014
Transient compartment-like syndrome and normokalaemic periodic paralysis due to a Ca(v)1.1 mutation.
Fan C et al.
Brain : a Journal of Neurology, 2013
Characterization of hyperkalemic periodic paralysis: a survey of genetically diagnosed individuals.
Charles G et al.
Journal of Neurology, 2013
A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness.
Lee E et al.
Muscle & Nerve, 2013
Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
Trivedi JR et al.
Brain : a Journal of Neurology, 2013
Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis.
Dejthevaporn C et al.
Neuromuscular Disorders : Nmd, 2013
The diagnosis and treatment of myotonic disorders.
Heatwole CR et al.
Muscle & Nerve, 2013
[Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].
Wei CJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2013
Normokalemic periodic paralysis is not a distinct disease.
Song YW et al.
Muscle & Nerve, 2012
Hypermorphic mutation of the voltage-gated sodium channel encoding gene Scn10a causes a dramatic stimulus-dependent neurobehavioral phenotype.
Blasius AL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.
Wu F et al.
The Journal of Clinical Investigation, 2011
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
Severe phenotypes of paralysis periodica paramyotonia are associated with the Met1592Val mutation in the voltage-gated sodium channel gene (SCN4A) in a Chinese family.
Feng Y et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2011
Na+,K+-pump stimulation improves contractility in isolated muscles of mice with hyperkalemic periodic paralysis.
Clausen T et al.
The Journal of General Physiology, 2011