Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Kubota T et al.
Disease Models & Mechanisms, 2023
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing.
Vivekanandam V et al.
Neuromuscular Disorders : Nmd, 2023
CaV1.1 Calcium Channel Signaling Complexes in Excitation-Contraction Coupling: Insights from Channelopathies.
Campiglio M et al.
Handbook of Experimental Pharmacology, 2023
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 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
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
Cell-Free Expression of Sodium Channel Domains for Pharmacology Studies. Noncanonical Spider Toxin Binding Site in the Second Voltage-Sensing Domain of Human Nav1.4 Channel.
Myshkin MY et al.
Frontiers in Pharmacology, 2019
SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review.
Shi J et al.
Frontiers in Neurology, 2019
Structural basis for gating pore current in periodic paralysis.
Jiang D et al.
Nature, 2018
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
Skeletal Muscle Channelopathies: Rare Disorders with Common Pediatric Symptoms.
Matthews E et al.
The Journal of Pediatrics, 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
A Large Dominant Myotonia Congenita Family with a V1293I Mutation in SCN4A.
Chung KW et al.
Journal of Clinical Neurology (seoul, Korea), 2016
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
Normokalemic periodic paralysis is not a distinct disease.
Song YW et al.
Muscle & Nerve, 2012
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
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
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
A practical approach to genetic hypokalemia.
Lin SH et al.
Electrolyte & Blood Pressure : E & Bp, 2010
Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.
Matthews E et al.
Neurology, 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
Design of a specific activator for skeletal muscle sodium channels uncovers channel architecture.
Cohen L et al.
The Journal of Biological Chemistry, 2007
Human skeletal muscle sodium channelopathies.
Vicart S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S et al.
Neurology, 2004