Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos 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
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
Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders.
Barbieri R et al.
Life (basel, Switzerland), 2023
Steroid-induced hypokalemic periodic paralysis: a case report and literature review.
Tai HT et al.
Bmc Nephrology, 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
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
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 2022
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants
Çetin T et al.
Journal of Clinical Research in Pediatric Endocrinology, 2021
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis.
Franklin JP et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020
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
NaV1.4 DI-S4 periodic paralysis mutation R222W enhances inactivation and promotes leak current to attenuate action potentials and depolarize muscle fibers.
Bayless-Edwards L et al.
Scientific Reports, 2018
Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels.
Wu F et al.
The Journal of General Physiology, 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
An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis.
Cannon SC
The Journal of General 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
The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis.
Ke Q et al.
Neuromuscular Disorders : Nmd, 2015
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
Muscle edema of the lower limb determined by MRI in Asian hypokalaemic periodic paralysis patients.
Jia BX et al.
Neurological Research, 2015
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
Wu L et al.
Cellular and Molecular Neurobiology, 2014
Gender differences in penetrance and phenotype in hypokalemic periodic paralysis.
Ke Q 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
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
Hypokalemic periodic paralysis; two different genes responsible for similar clinical manifestations.
Kim H et al.
Korean Journal of Pediatrics, 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
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the sodium channel gene SCN4A.
Park YH et al.
Korean Journal of Pediatrics, 2010
Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?
Matthews E et al.
The Journal of Physiology, 2010
Glucocorticoids may trigger attacks in several types of periodic paralysis.
Arzel-Hézode M et al.
Neuromuscular Disorders : Nmd, 2009
Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.
Struyk AF et al.
The Journal of General Physiology, 2008
[Sodium channel alpha-1-subunit gene mutations and epilepsy].
Wang JW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.
Xiuhai G et al.
Cellular and Molecular Neurobiology, 2008
Toxic thyroid adenoma presenting as hypokalemic periodic paralysis.
Tagami T et al.
Endocrine Journal, 2007
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Kim JB et al.
Journal of Korean Medical Science, 2007
A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating pore.
Struyk AF et al.
The Journal of General Physiology, 2007
Gating defects of a novel Na+ channel mutant causing hypokalemic periodic paralysis.
Carle T et al.
Biochemical and Biophysical Research Communications, 2006
[The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis].
Ke Q et al.
Zhonghua Yi Xue Za Zhi, 2006