Associated Papers
AlphaMissense prediction for the evaluation of missense variants in the diagnostic setting of neuromuscular disorders.
Krenn M et al.
Journal of Neuromuscular Diseases, 2025
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
Steroid-induced hypokalemic periodic paralysis: a case report and literature review.
Tai HT et al.
Bmc Nephrology, 2023
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.
Wang Q et al.
Channels (austin, Tex.), 2021
Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.
Sun J et al.
Neuromuscular Disorders : Nmd, 2021
Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N et al.
Journal of Neurology, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
Genetic Diagnosis Spectrum and Multigenic Burden of Exome-Level Rare Variants in a Childhood Epilepsy Cohort.
Yao R et al.
Frontiers in Genetics, 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
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.
Luo S et al.
Bmc 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
Gating Pore Currents in Sodium Channels.
Groome JR et al.
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
Successful treatment of periodic paralysis with coenzyme Q10: two case reports.
Da Y et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2016
A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.
Habbout K et al.
Neurology, 2016
Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
Liu XL et al.
Channels (austin, Tex.), 2015
Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.
Loussouarn G et al.
Frontiers in Pharmacology, 2015
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
Wu L et al.
Cellular and Molecular Neurobiology, 2014
Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?
Gosselin-Badaroudine P et al.
Channels (austin, Tex.), 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
[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
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Glucocorticoids may trigger attacks in several types of periodic paralysis.
Arzel-Hézode M et al.
Neuromuscular Disorders : Nmd, 2009
Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis.
Sokolov S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2008
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
Wu L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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
[The mutation R672H in SCN4A gene exists in Chinese patients with hypokalaemic periodic paralysis].
Ke Q et al.
Zhonghua Yi Xue Za Zhi, 2006
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S et al.
Neurology, 2004