NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
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Channelopathies of skeletal muscle excitabilityStructure-based assessment of disease-related mutations in human voltage-gated sodium channels.Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy.A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias.Biophysics, pathophysiology, and pharmacology of ion channel gating pores.Molecular biology and biophysical properties of ion channel gating pores.Hypokalemic periodic paralysis: an omega pore mutation affects inactivation.Gating pore currents, a new pathological mechanism underlying cardiac arrhythmias associated with dilated cardiomyopathy.Domain III S4 in closed-state fast inactivation: insights from a periodic paralysis mutationMutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.Spider toxin inhibits gating pore currents underlying periodic paralysis.A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH-Sensitivity in Skeletal Muscle Voltage-gated Sodium Channels.Hypokalaemic periodic paralysis and myotonia in a patient with homozygous mutation p.R1451L in NaV1.4.A New Cardiac Channelopathy: From Clinical Phenotypes to Molecular Mechanisms Associated With Na1.5 Gating PoresGating Pore Currents in Sodium ChannelsA leaky voltage sensor domain of cardiac sodium channels causes arrhythmias associated with dilated cardiomyopathy
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NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 18 February 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
NaV1.4 mutations cause hypokal ...... IIS4 movement during recovery.
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NaV1.4 mutations cause hypokal ...... IIS4 movement during recovery.
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type
label
NaV1.4 mutations cause hypokal ...... IIS4 movement during recovery.
@en
NaV1.4 mutations cause hypokal ...... IIS4 movement during recovery.
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prefLabel
NaV1.4 mutations cause hypokal ...... IIS4 movement during recovery.
@en
NaV1.4 mutations cause hypokal ...... IIS4 movement during recovery.
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P2860
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NaV1.4 mutations cause hypokal ...... IIS4 movement during recovery.
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Chunxiang Fan
Frank Lehmann-Horn
James R Groome
Luciano Merlini
Markus Wolf
Vern Winston
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P304
P356
10.1093/BRAIN/AWU015
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P577
2014-02-18T00:00:00Z