Associated Papers
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 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
Optical measurement of gating pore currents in hypokalemic periodic paralysis model cells.
Kubota T et al.
Disease Models & Mechanisms, 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
Short-Communication: Variable Expression of Clinical Symptoms and an Unexpected Finding of Vacuolar Myopathy Related to a Pathogenic Variant in the CACNA1S Gene in a Previous Case Report.
Benítez-Alonso EO et al.
Cureus, 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
New Challenges Resulting From the Loss of Function of Nav1.4 in Neuromuscular Diseases.
Nicole S et al.
Frontiers in Pharmacology, 2021
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
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
Spider toxin inhibits gating pore currents underlying periodic paralysis.
Männikkö R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Review of the Diagnosis and Treatment of Periodic Paralysis.
Statland JM et al.
Muscle & Nerve, 2018
Gating Pore Currents in Sodium Channels.
Groome JR et al.
Handbook of Experimental Pharmacology, 2018
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
Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.
Imbrici P et al.
Frontiers in Pharmacology, 2016
Channelopathies of skeletal muscle excitability.
Cannon SC
Comprehensive Physiology, 2015
Enhanced slow inactivation of the human skeletal muscle sodium channel causing normokalemic periodic paralysis.
Wu L et al.
Cellular and Molecular Neurobiology, 2014
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
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
Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.
Francis DG et al.
Neurology, 2011
Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies.
Tricarico D et al.
Frontiers in Pharmacology, 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
Homozygosity for dominant mutations increases severity of muscle channelopathies.
Arzel-Hézode M et al.
Muscle & Nerve, 2010
Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A.
Luan X et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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
Association of genetic variants in GABRA3 gene and thyrotoxic hypokalaemic periodic paralysis in Thai population.
Jongjaroenprasert W et al.
Clinical Endocrinology, 2008
Autonomously functioning thyroid nodule associated with thyrotoxic periodic paralysis.
Ozaki H et al.
Endocrine Journal, 2008
Thyrotoxic periodic paralysis in an Italian man: clinical manifestation and genetic analysis.
Vendrame F et al.
Annals of Clinical Biochemistry, 2008
Muscle channelopathies and electrophysiological approach.
Cherian A et al.
Annals of Indian Academy of Neurology, 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
Design of a specific activator for skeletal muscle sodium channels uncovers channel architecture.
Cohen L et al.
The Journal of Biological Chemistry, 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
Skeletal muscle dihydropyridine-sensitive calcium channel (CACNA1S) gene mutations in chinese patients with hypokalemic periodic paralysis.
Lin SH et al.
The American Journal of the Medical Sciences, 2005
A Korean family of hypokalemic periodic paralysis with mutation in a voltage-gated calcium channel (R1239G).
Kim JB et al.
Journal of Korean Medical Science, 2005
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
Vicart S et al.
Neurology, 2004
Electromyography guides toward subgroups of mutations in muscle channelopathies.
Fournier E et al.
Annals of Neurology, 2004
Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
Kim MK et al.
Neuromuscular Disorders : Nmd, 2004
Hypokalaemia and paralysis in the Thai population.
Phakdeekitcharoen B et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2004
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.
Marchant CL et al.
Muscle & Nerve, 2004
Molecular biology of channelopathies: impact on diagnosis and treatment.
Avanzini G et al.
Expert Review of Neurotherapeutics, 2004
Association of novel single nucleotide polymorphisms in the calcium channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis.
Kung AW et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Lack of association of the potassium channel-associated peptide MiRP2-R83H variant with periodic paralysis.
Sternberg D et al.
Neurology, 2003