Associated Papers
Novel CACNA1S Mutation c.3491 A>C in Hypokalemic Periodic Paralysis: First Report with Functional Validation.
Shu H et al.
Journal of Molecular Neuroscience : Mn, 2026
Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis.
Denman K et al.
Muscle & Nerve, 2026
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
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Kubota T et al.
Disease Models & Mechanisms, 2023
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5.
Zhang X et al.
Clinical Genetics, 2022
Voltage-dependent Ca2+ release is impaired in hypokalemic periodic paralysis caused by CaV1.1-R528H but not by NaV1.4-R669H.
DiFranco M et al.
American Journal of Physiology. Cell Physiology, 2022
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
Case report: SCN4A p.R1135H gene variant in combination with thyrotoxicosis causing hypokalemic periodic paralysis.
Zhang Z et al.
Frontiers in Neurology, 2022
Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review.
Kim HR et al.
Electrolyte & Blood Pressure : E & Bp, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
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
Hypokalaemic periodic paralysis with a charge-retaining substitution in the voltage sensor.
Kubota T et al.
Brain Communications, 2020
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 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
Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.
Dehghani-Samani A et al.
Acta Cardiologica Sinica, 2019
A204E mutation in Nav1.4 DIS3 exerts gain- and loss-of-function effects that lead to periodic paralysis combining hyper- with hypo-kalaemic signs.
Kokunai Y et al.
Scientific Reports, 2018
Diverse phenotype of hypokalaemic periodic paralysis within a family.
Chalissery AJ et al.
Practical Neurology, 2018
Sodium Channelopathies of Skeletal Muscle.
Cannon SC
Handbook of Experimental Pharmacology, 2018
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 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
An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis.
Cannon SC
The Journal of General Physiology, 2017
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
NMR investigation of the isolated second voltage-sensing domain of human Nav1.4 channel.
Paramonov AS et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
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
Signature and Pathophysiology of Non-canonical Pores in Voltage-Dependent Cation Channels.
Held K et al.
Reviews of Physiology, Biochemistry and Pharmacology, 2016
Mutation analysis of CACNA1S and SCN4A in patients with hypokalemic periodic paralysis.
Wang XY et al.
Molecular Medicine Reports, 2015
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 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
Cardiac arrhythmias in hypokalemic periodic paralysis: Hypokalemia as only cause?
Stunnenberg BC et al.
Muscle & Nerve, 2014
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
Wu L et al.
Cellular and Molecular Neurobiology, 2014
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.
Wu F et al.
Brain : a Journal of Neurology, 2013
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
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.
Statland JM et al.
Continuum (minneapolis, Minn.), 2013
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.
Ke Q et al.
Muscle & Nerve, 2013
A calcium channel mutant mouse model of hypokalemic periodic paralysis.
Wu F et al.
The Journal of Clinical Investigation, 2012
Genotype and phenotype analysis of patients with sporadic periodic paralysis.
Sung CC et al.
The American Journal of the Medical Sciences, 2012
Novel insights into the pathomechanisms of skeletal muscle channelopathies.
Burge JA et al.
Current Neurology and Neuroscience Reports, 2012
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
Matthews E et al.
Neurology, 2011