Associated Papers
Molecular determinants of resurgent sodium currents mediated by Navβ4 peptide and A-type FHFs.
Xiao Y et al.
Frontiers in Molecular Neuroscience, 2024
Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.
Fouda MA et al.
The Journal of Physiology, 2022
Kinetic Alterations in Resurgent Sodium Currents of Mutant Nav1.4 Channel in Two Patients Affected by Paramyotonia Congenita.
Lee MJ et al.
Biology, 2022
Sodium channelopathies of skeletal muscle and brain.
Mantegazza M et al.
Physiological Reviews, 2021
Changes in Resurgent Sodium Current Contribute to the Hyperexcitability of Muscles in Patients with Paramyotonia Congenita.
Huang CW et al.
Biomedicines, 2021
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
Desaphy JF et al.
Journal of Neuromuscular Diseases, 2021
Changes of Resurgent Na+ Currents in the Nav1.4 Channel Resulting from an SCN4A Mutation Contributing to Sodium Channel Myotonia.
Huang CW et al.
International Journal of Molecular Sciences, 2020
Role of the voltage sensor module in Nav domain IV on fast inactivation in sodium channelopathies: The implication of closed-state inactivation.
Nakajima T et al.
Channels (austin, Tex.), 2019
Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.
Poulin H et al.
Scientific Reports, 2018
N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q et al.
The Journal of Physiology, 2017
Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.
Walsh R et al.
Journal of Medical Genetics, 2014
Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Nurputra DK et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
Inhibition of Navβ4 peptide-mediated resurgent sodium currents in Nav1.7 channels by carbamazepine, riluzole, and anandamide.
Theile JW et al.
Molecular Pharmacology, 2011
Skeletal muscle na channel disorders.
Simkin D et al.
Frontiers in Pharmacology, 2011
Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents.
Jarecki BW et al.
The Journal of Clinical Investigation, 2010
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
A Korean family with Arg1448Cys mutation of SCN4A channel causing paramyotonia congenita: electrophysiologic, histopathologic, and molecular genetic studies.
Kim DS et al.
Journal of Korean Medical Science, 2002
Genetic disorders of neuromuscular ion channels.
Kleopa KA et al.
Muscle & Nerve, 2002
Channel cytoplasmic loops alter voltage-dependent sodium channel activation in an isoform-specific manner.
Bennett ES
The Journal of Physiology, 2001
Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Sugiura Y et al.
Neurology, 2000
Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.
Davies NP et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2000
Neurological channelopathies: diagnosis and therapy in the new millennium.
Davies NP et al.
Annals of Medicine, 1999
Myopathic mutations affect differently the inactivation of the two gating modes of sodium channels.
Moran O et al.
Journal of Bioenergetics and Biomembranes, 1999
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.
Bendahhou S et al.
The Journal of Physiology, 1999
Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.
Bendahhou S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.
Fleischhauer R et al.
Pflugers Archiv : European Journal of Physiology, 1998
The familial periodic paralyses and nondystrophic myotonias.
Ptácek L
The American Journal of Medicine, 1998
A defect in skeletal muscle sodium channel deactivation exacerbates hyperexcitability in human paramyotonia congenita.
Featherstone DE et al.
The Journal of Physiology, 1998
Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant.
Richmond JE et al.
Biophysical Journal, 1997
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Wagner S et al.
Neurology, 1997
Paramyotonia, potassium-aggravated myotonias and periodic paralyses. 37th ENMC International Workshop, Naarden, The Netherlands, 8-10 December 1995.
Rüdel R et al.
Neuromuscular Disorders : Nmd, 1997
Phenotype variation and newcomers in ion channel disorders.
Bulman DE
Human Molecular Genetics, 1997
Hereditary dysfunction of voltage-gated sodium channels: from clinical phenotype to molecular mechanisms.
George AL
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 1996
Channelopathies: the nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Seminars in Pediatric Neurology, 1996
Hereditary nondystrophic myotonias and periodic paralyses.
Lehmann-Horn F et al.
Current Opinion in Neurology, 1995
Ranolazine block of human Na v 1.4 sodium channels and paramyotonia congenita mutants.
El-Bizri N et al.
Channels (austin, Tex.), 0