Associated Papers
Genetic Study of a Greek Family with Hypokalemic Periodic Paralysis in Four Generations.
Yapijakis C et al.
Advances in Experimental Medicine and Biology, 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
Mutations associated with hypokalemic periodic paralysis: from hotspot regions to complete analysis of CACNA1S and SCN4A genes.
Brugnoni R et al.
Neurogenetics, 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
Identification of gene mutations in patients with primary periodic paralysis using targeted next-generation sequencing.
Luo S et al.
Bmc Neurology, 2019
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
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
Genotype and phenotype analysis of patients with sporadic periodic paralysis.
Sung CC et al.
The American Journal of the Medical Sciences, 2012
Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype.
Matthews E et al.
Neurology, 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
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family.
Ke T et al.
Journal of Human Genetics, 2009
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E et al.
Neurology, 2009
The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.
Kim JB et al.
Journal of Korean Medical Science, 2007
Mutation screening in Chinese hypokalemic periodic paralysis patients.
Wang W et al.
Molecular Genetics and Metabolism, 2006
Correlating phenotype and genotype in the periodic paralyses.
Miller TM et al.
Neurology, 2004
Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
Kim MK et al.
Neuromuscular Disorders : Nmd, 2004
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0