A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias.

No abstract is available for this paper.

• Publication year

  2016

• Venue

  Journal of Molecular and Cellular Cardiology

• Publication date

  2016-03-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.yjmcc.2016.01.014PMID 26801742PMCID PMC4789166
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Direct Measurement of Cardiac Na+ Channel Conformations Reveals Molecular Pathologies of Inherited Mutations

  2015cited by this paper
• Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy

  2015influential reference
• Domain III S4 in closed-state fast inactivation: Insights from a periodic paralysis mutation

  2014cited by this paper
• The Xenopus oocyte cut-open vaseline gap voltage-clamp technique with fluorometry.

  2014cited by this paper
• NaV1.4 mutations cause hypokalaemic periodic paralysis by disrupting IIIS4 movement during recovery

  2014cited by this paper
• The diagnostic and therapeutic aspects of loss-of-function cardiac sodium channelopathies in children.

  2012cited by this paper
• Brugada-Like Syndrome in Infancy Presenting With Rapid Ventricular Tachycardia and Intraventricular Conduction Delay

  2012cited by this paper
• A Proton Leak Current through the Cardiac Sodium Channel Is Linked to Mixed Arrhythmia and the Dilated Cardiomyopathy Phenotype

  2012influential reference
• A calcium channel mutant mouse model of hypokalemic periodic paralysis.

  2012cited by this paper
• Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

  2012cited by this paper
• Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A -Related Cardiac Channelopathy

  2012cited by this paper
• SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

  2011cited by this paper
• The S1103Y Cardiac Sodium Channel Variant Is Associated With Implantable Cardioverter-Defibrillator Events in Blacks With Heart Failure and Reduced Ejection Fraction

  2011cited by this paper
• A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

  2011cited by this paper
• A method and server for predicting damaging missense mutations

  2010cited by this paper
• Ion permeation and block of the gating pore in the voltage sensor of NaV1.4 channels with hypokalemic periodic paralysis mutations

  2010cited by this paper
• Muscle channelopathies: does the predicted channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?

  2010cited by this paper
• Cardiac sodium channelopathies

  2009cited by this paper
• Latent Genetic Backgrounds and Molecular Pathogenesis in Drug-Induced Long-QT Syndrome

  2009cited by this paper
• Gating Pore Currents in DIIS4 Mutations of NaV1.4 Associated with Periodic Paralysis: Saturation of Ion Flux and Implications for Disease Pathogenesis

  2008cited by this paper
• Depolarization-activated gating pore current conducted by mutant sodium channels in potassium-sensitive normokalemic periodic paralysis

  2008cited by this paper
• Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities.

  2007cited by this paper
• A Na+ Channel Mutation Linked to Hypokalemic Periodic Paralysis Exposes a Proton-selective Gating Pore

  2007cited by this paper
• Gating pore current in an inherited ion channelopathy

  2007cited by this paper
• Voltage-sensing arginines in a potassium channel permeate and occlude cation-selective pores.

  2005cited by this paper
• Ion permeation through a voltage- sensitive gating pore in brain sodium channels having voltage sensor mutations.

  2005cited by this paper
• Role of SCN5A Y1102 Polymorphism in Sudden Cardiac Death in Blacks

  2005cited by this paper
• A proton pore in a potassium channel voltage sensor reveals a focused electric field

  2004cited by this paper
• SCN5A Mutation Associated With Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia

  2004cited by this paper
• Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System

  2003cited by this paper
• Molecular Action of Lidocaine on the Voltage Sensors of Sodium Channels

  2003cited by this paper
• Tracking Voltage-dependent Conformational Changes in Skeletal Muscle Sodium Channel during Activation

  2002cited by this paper
• Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia

  2002cited by this paper
• From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels.

  2000cited by this paper
• Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation.

  1999cited by this paper
• A unique role for the S4 segment of domain 4 in the inactivation of sodium channels

  1996cited by this paper
• A Mutant of TTX-Resistant Cardiac Sodium Channels with TTX-Sensitive Properties

  1992cited by this paper
• Blockade of Cardiac Sodium Channels by Lidocaine Single-Channel Analysis

  1989cited by this paper
• Primary structure of Electrophorus electricus sodium channel deduced from cDNA sequence

  1984cited by this paper

• Targeting Nav1.5 with DKK678 attenuates NF-κB-driven inflammatory injury in skeletal muscle.

  2025cites this paper
• Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review

  2025cites this paper
• Bridging structural insight and clinical impact in channelopathies

  2025cites this paper
• Variability in reported midpoints of (in)activation of cardiac INa

  2024cites this paper
• Biophysical mechanisms of myocardium sodium channelopathies

  2024cites this paper
• Atrial Standstill in the Pediatric Population: A Multi-Institution Collaboration.

  2022cites this paper
• Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients

  2021cites this paper
• Molecular Pathology of Sodium Channel Beta-Subunit Variants

  2021cites this paper
• Conformations of voltage-sensing domain III differentially define NaV channel closed- and open-state inactivation

  2021cites this paper
• Identification of rare heterozygous linkage R965C‐R1309H mutations in the pore‐forming region of SCN5A gene associated with complex arrhythmia

  2021influential citation
• Tracking the movement of discrete gating charges in a voltage-gated potassium channel

  2020cites this paper
• The trajectory of discrete gating charges in a voltage-gated potassium channel

  2020cites this paper
• More Severe Loss-of-Function Sodium Channel induced by Compound SCN5A R965C and R1309H Mutants lead to Complex Familial Arrhythmia Syndrome

  2019influential citation
• Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene

  2019cites this paper
• Comparing human iPSC-cardiomyocytes versus HEK293T cells unveils disease-causing effects of Brugada mutation A735V of NaV1.5 sodium channels

  2019cites this paper
• Cardiac voltage-gated sodium channel mutations associated with left atrial dysfunction and stroke in children

  2018cites this paper
• Molecular Basis of Class Ib Drug Interactions with the NaV Channel Macromolecular Complex: A Route to Personalized Medicine for Cardiac Arrhythmia

  2018cites this paper
• How to Connect Cardiac Excitation to the Atomic Interactions of Ion Channels

  2018cites this paper
• Dysfunctional Nav1.5 channels due to SCN5A mutations

  2018cites this paper
• Sulfur‐containing gaseous signal molecules, ion channels and cardiovascular diseases

  2018cites this paper
• Potential new mechanisms of pro-arrhythmia in arrhythmogenic cardiomyopathy: focus on calcium sensitive pathways

  2017cites this paper
• Mechanisms of noncovalent β subunit regulation of NaV channel gating

  2017cites this paper
• Neonatal complex arrhythmias possibly related to a TTN mutation

  2017cites this paper
• Human In Silico Drug Trials Demonstrate Higher Accuracy than Animal Models in Predicting Clinical Pro-Arrhythmic Cardiotoxicity

  2017cites this paper
• Déterminants moléculaires du clivage protéolytique nécessaire à la fonction de la sous-unité CaVα2δ1 du canal calcique CaV1.2

  2017cites this paper
• Multi-scale modeling and variability in cardiac cellular electrophysiology

  2017cites this paper
• Tracking the movement of discrete gating charges in a voltage-gated potassium 1 channel 2 3

  year unknowncites this paper