Dysfunctional Nav1.5 channels due to SCN5A mutations

No abstract is available for this paper.

• Publication year

  2018

• Venue

  Experimental biology and medicine

• Publication date

  2018-05-27

• Fields of study

  Medicine

• Identifiers
  DOI 10.1177/1535370218777972PMID 29806494PMCID PMC6022915
• 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.

• Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Nav1.5 gain-of-function mutation (G213D).

  2018cited by this paper
• Whole-exome sequencing identifies a Novel SCN5A mutation (C335R) in a Chinese family with arrhythmia

  2018cited by this paper
• Sodium channel current loss of function in induced pluripotent stem cell-derived cardiomyocytes from a Brugada syndrome patient

  2018cited by this paper
• Marked exercise‐induced T‐wave heterogeneity in symptomatic diabetic patients with nonflow‐limiting coronary artery stenosis

  2018cited by this paper
• Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation.

  2017cited by this paper
• Cardiac action potential repolarization revisited: early repolarization shows all‐or‐none behaviour

  2017cited by this paper
• Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q Variant

  2017cited by this paper
• Frontal plane T-wave axis orientation predicts coronary events: Findings from the Moli-sani study.

  2017cited by this paper
• Whole‑exome sequencing identifies a novel mutation (R367G) in SCN5A to be associated with familial cardiac conduction disease.

  2017cited by this paper
• Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function

  2017cited by this paper
• p.N1380del mutation in the pore-forming region of SCN5A gene is associated with cardiac conduction disturbance and ventricular tachycardia

  2017cited by this paper
• Development of a Patient-Derived Induced Pluripotent Stem Cell Model for the Investigation of SCN5A-D1275N-Related Cardiac Sodium Channelopathy.

  2017cited by this paper
• Pathogenesis and management of Brugada syndrome

  2016cited by this paper
• Cardiac conduction defects and Brugada syndrome: A family with overlap syndrome carrying a nonsense SCN5A mutation

  2016cited by this paper
• A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG

  2016cited by this paper
• Cardiac sodium channel mutation associated with epinephrine-induced QT prolongation and sinus node dysfunction.

  2016cited by this paper
• A novel NaV1.5 voltage sensor mutation associated with severe atrial and ventricular arrhythmias.

  2016cited by this paper
• A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome

  2016cited by this paper
• Calcium handling precedes cardiac differentiation to initiate the first heartbeat

  2016cited by this paper
• p.D1690N sodium voltage-gated channel α subunit 5 mutation reduced sodium current density and is associated with Brugada syndrome.

  2016cited by this paper
• Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations

  2016cited by this paper
• Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

  2016cited by this paper
• A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.

  2016cited by this paper
• SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia

  2015cited by this paper
• Na+ channel function, regulation, structure, trafficking and sequestration

  2015cited by this paper
• Novel heterozygous mutation c.4282G>T in the SCN5A gene in a family with Brugada syndrome.

  2015cited by this paper
• De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome

  2015cited by this paper
• Enhanced fast-inactivated state stability of cardiac sodium channels by a novel voltage sensor SCN5A mutation, R1632C, as a cause of atypical Brugada syndrome.

  2015cited by this paper
• Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis

  2015cited by this paper
• Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.

  2014cited by this paper
• PDZ Domain–Binding Motif Regulates Cardiomyocyte Compartment-Specific NaV1.5 Channel Expression and Function

  2014cited by this paper
• A Mutation Causing Brugada Syndrome Identifies a Mechanism for Altered Autonomic and Oxidant Regulation of Cardiac Sodium Currents

  2014cited by this paper
• A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.

  2014cited by this paper
• Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A.

  2014cited by this paper
• Cardiac Channelopathies Associated with Infantile Fatal Ventricular Arrhythmias: From the Cradle to the Bench

  2014cited by this paper
• Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.

  2014cited by this paper
• Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

  2014cited by this paper
• E1784K mutation in SCN5A and overlap syndrome.

  2014cited by this paper
• Gain-of-Function Mutation of the SCN5A Gene Causes Exercise-Induced Polymorphic Ventricular Arrhythmias

  2014cited by this paper
• Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

  2013cited by this paper
• A heterozygous missense SCN5A mutation associated with early repolarization syndrome.

  2013cited by this paper
• Functional Characterization of a Novel Frameshift Mutation in the C-terminus of the Nav1.5 Channel Underlying a Brugada Syndrome with Variable Expression in a Spanish Family

  2013cited by this paper
• Sodium overload due to a persistent current that attenuates the arrhythmogenic potential of a novel LQT3 mutation

  2013cited by this paper
• Novel SCN5A mutations in two families with “Brugada-like” ST elevation in the inferior leads and conduction disturbances

  2013cited by this paper
• Autosomal recessive paediatric sick sinus syndrome associated with novel compound mutations in SCN5A.

  2013cited by this paper
• SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities.

  2013cited by this paper
• A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome.

  2013cited by this paper
• p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.

  2013cited by this paper
• A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome

  2013cited by this paper
• A1180V of Cardiac Sodium Channel Gene (SCN5A): Is It a Risk Factor for Dilated Cardiomyopathy or Just a Common Variant in Han Chinese?

  2013cited by this paper
• Electrophysiological Characteristics of a SCN5A Voltage Sensors Mutation R1629Q Associated With Brugada Syndrome

  2013cited by this paper
• Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.

  2013cited by this paper
• Novel deletion mutation in the cardiac sodium channel inactivation gate causes long QT syndrome.

  2013cited by this paper
• Noncanonical roles of voltage-gated sodium channels.

  2013cited by this paper
• Characterization and Mechanisms of Action of Novel NaV1.5 Channel Mutations Associated With Brugada Syndrome

  2013cited by this paper
• A Heterozygous Deletion Mutation in the Cardiac Sodium Channel Gene SCN5A with Loss- and Gain-of-Function Characteristics Manifests as Isolated Conduction Disease, without Signs of Brugada or Long QT Syndrome

  2013cited by this paper
• Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification

  2013cited by this paper
• Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool model.

  2013cited by this paper
• Induced pluripotent stem cells used to reveal drug actions in a long QT syndrome family with complex genetics

  2013cited by this paper
• Ca2+/Calmodulin-Dependent Protein Kinase II–Based Regulation of Voltage-Gated Na+ Channel in Cardiac Disease

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

  2012cited by this paper
• CaMKII-Based Regulation of Voltage-Gated Na + Channel in Cardiac Disease Quantitative modeling

  2012cited by this paper
• Cardiac channelopathy causing sudden death as revealed by molecular autopsy

  2012cited by this paper
• Delayed Afterdepolarization in Intact Canine Sinoatrial Node as a Novel Mechanism for Atrial Arrhythmia

  2011cited by this paper
• A Brugada syndrome mutation (p.S216L) and its modulation by p.H558R polymorphism: standard and dynamic characterization.

  2011cited by this paper
• Alternative Splicing of the Cardiac Sodium Channel Creates Multiple Variants of Mutant T1620K Channels

  2011cited by this paper
• Nav1.5-dependent persistent Na+ influx activates CaMKII in rat ventricular myocytes and N1325S mice.

  2011cited by this paper
• Na+ channel regulation by Ca2+/calmodulin and Ca2+/calmodulin-dependent protein kinase II in guinea-pig ventricular myocytes.

  2010cited by this paper
• Early afterdepolarizations and cardiac arrhythmias.

  2010cited by this paper
• Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

  2010cited by this paper
• Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.

  2009cited by this paper
• Spontaneous calcium release in tissue from the failing canine heart.

  2009cited by this paper
• Burst Emergence of Intracellular Ca2+ Waves Evokes Arrhythmogenic Oscillatory Depolarization via the Na+–Ca2+ Exchanger: Simultaneous Confocal Recording of Membrane Potential and Intracellular Ca2+ in the Heart

  2008cited by this paper
• SCN5A channelopathies--an update on mutations and mechanisms.

  2008cited by this paper
• Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.

  2008cited by this paper
• Oxidative Stress–Induced Afterdepolarizations and Calmodulin Kinase II Signaling

  2008cited by this paper
• A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.

  2008cited by this paper
• Cardiac Sodium Channel Gene Variants and Sudden Cardiac Death in Women

  2008cited by this paper
• Cardiac potassium channel dysfunction in sudden infant death syndrome.

  2007cited by this paper
• A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia.

  2007cited by this paper
• Brugada Syndrome

  2007cited by this paper
• Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease.

  2007cited by this paper
• The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

  2007cited by this paper
• SCN5A R1193Q polymorphism associated with progressive cardiac conduction defects and long QT syndrome in a Chinese family

  2007cited by this paper
• Dilated cardiomyopathy is associated with reduced expression of the cardiac sodium channel Scn5a.

  2007cited by this paper
• Cardiac Sodium Channel Dysfunction in Sudden Infant Death Syndrome

  2007cited by this paper
• A Novel and Lethal De Novo LQT-3 Mutation in a Newborn with Distinct Molecular Pharmacology and Therapeutic Response

  2007cited by this paper
• A Common Polymorphism in SCN5A is Associated with Lone Atrial Fibrillation

  2007cited by this paper
• Compound Heterozygous Mutations P336L and I1660V in the Human Cardiac Sodium Channel Associated With the Brugada Syndrome

  2006cited by this paper
• Sodium Channel Variants in Heart Disease: Expanding Horizons

  2006cited by this paper
• A multi-modal composition of the late Na+ current in human ventricular cardiomyocytes.

  2006influential reference
• A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

  2006cited by this paper
• Long‐QT syndrome‐related sodium channel mutations probed by the dynamic action potential clamp technique

  2006cited by this paper
• A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.

  2005cited by this paper
• Molecular basis of arrhythmias.

  2005cited by this paper
• Cellular Mechanism of Calcium-Mediated Triggered Activity in the Heart

  2005cited by this paper
• Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

  2005cited by this paper
• Pathophysiological mechanisms of Brugada syndrome: depolarization disorder, repolarization disorder, or more?

  2005cited by this paper
• Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

  2005cited by this paper
• Antagonism by Ranolazine of the Pro-Arrhythmic Effects of Increasing Late INa in Guinea Pig Ventricular Myocytes

  2004cited by this paper

• Calcium interaction with Nav1.5 via FGF12A and CaM binding

  2026cites this paper
• NMDA‐Type Glutamate Receptor Activation Promotes Ischemic Arrhythmias by Targeting the AKT1–TBX3–Nav1.5 Axis

  2025cites this paper
• Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation

  2025cites this paper
• Capsaicin: beyond TRPV1

  2025cites this paper
• Clinical characteristics and gene analysis of long QT syndrome in 15 children

  2025cites this paper
• Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel

  2025cites this paper
• FGF12A Regulates Nav1.5 via CaM-regulated and CaM-independent Mechanisms

  2025influential citation
• Binding of LncDACH1 to dystrophin impairs the membrane trafficking of Nav1.5 protein and increases ventricular arrhythmia susceptibility

  2025cites this paper
• Paeonol can improve hypoxic-induced H9c2 cells injury and ion channel activity by up-regulating the expression of CKIP-1.

  2024cites this paper
• The many faces of SCN5A pathogenic variants: from channelopathy to cardiomyopathy

  2024cites this paper
• Aged gut microbiota promotes arrhythmia susceptibility via oxidative stress

  2024cites this paper
• Automated radiosynthesis and preclinical imaging of a novel [18F]fluorolidocaine analogue via sequential C–H radiolabelling

  2024cites this paper
• Requirement of β subunit for the reduced voltage-gated Na+ current of a Brugada syndrome patient having novel double missense mutation (p.A385T/R504T) of SCN5A

  2024cites this paper
• Sorafenib reduces the production of epoxyeicosatrienoic acids and leads to cardiac injury by inhibiting CYP2J in rats.

  2024cites this paper
• Mechanisms of expression, trafficking and biophysical activity regulation of voltage-gated cardiac sodium channels

  2023cites this paper
• The Role of Nucleoporins in Cardiac Tissue Development and Disease.

  2023cites this paper
• Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

  2023cites this paper
• Cell-Free Synthesis and Electrophysiological Analysis of Multipass Voltage-Gated Ion Channels Tethered in Microsomal Membranes.

  2023cites this paper
• CYP2J deficiency leads to cardiac injury and presents dual regulatory effects on cardiac function in rats.

  2023cites this paper
• Recent Advances in Computer-Aided Structure-Based Drug Design on Ion Channels

  2023cites this paper
• Advances in Ion Channel, Non-Desmosomal Variants and Autophagic Mechanisms Implicated in Arrhythmogenic Cardiomyopathy

  2023cites this paper
• Absolute Quantification of Nav1.5 Expression by Targeted Mass Spectrometry

  2022cites this paper
• Prevalence and Risk Factors of QTc Prolongation During Pregnancy

  2022cites this paper
• Role of ranolazine in heart failure: From cellular to clinic perspective.

  2022cites this paper
• Discovering the Triad between Nav1.5, Breast Cancer, and the Immune System: A Fundamental Review and Future Perspectives

  2022cites this paper
• Reentry in cardiac ventricular epicardial tissue due to SCN5A L812Q gene mutation: a computational study

  2022cites this paper
• Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death

  2022cites this paper
• Colchicine prevents ventricular arrhythmias vulnerability in diet-induced obesity rats.

  2022cites this paper
• The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease

  2022cites this paper
• Functional evaluation of the tachycardia patient‐derived iPSC cardiomyocytes carrying a novel pathogenic SCN5A variant

  2022cites this paper
• Human macrophages directly modulate iPSC-derived cardiomyocytes at healthy state and congenital arrhythmia model in vitro

  2022cites this paper
• Inhibition of late sodium current via PI3K/Akt signaling prevents cellular remodeling in tachypacing-induced HL-1 atrial myocytes

  2022cites this paper
• Detoxification mechanisms of ginseng to aconite: A review.

  2022cites this paper
• Électrophysiologie cardiaque

  2021cites this paper
• Ca2+ mishandling in heart failure: Potential targets

  2021cites this paper
• In vitro discovery of novel prokaryotic ion channel candidates for antiarrhythmic gene therapy.

  2021cites this paper
• Binding of LncRNA-DACH1 to dystrophin impairs the membrane trafficking of Nav1.5 protein and increases ventricular arrhythmia susceptibility

  2021cites this paper
• Computational Study of SCN5A L812Q Gene Mutation in Epicardial Cells

  2021cites this paper
• Atrial Fibrillation in Inherited Channelopathies.

  2021cites this paper
• Digenic heterozygous mutations of KCNH2 and SCN5A induced young and early‐onset long QT syndrome and sinoatrial node dysfunction

  2021cites this paper
• Reliable identification of cardiac conduction abnormalities in drug discovery using automated patch clamp II: Best practices for Nav1.5 peak current in a high throughput screening environment.

  2021cites this paper
• Coexistence of Two Rare Genetic Variants in Canonical and Non-canonical Exons of SCN5A: A Potential Source of Misinterpretation

  2021cites this paper
• Brugada syndrome: current concepts and genetic background

  2021cites this paper
• Contributions of S- and R-citalopram to the citalopram-induced modulation of the function of Nav1.5 voltage-gated sodium channels.

  2021cites this paper
• Fibroblast growth factor 21 inhibited ischemic arrhythmias via targeting miR-143/EGR1 axis

  2020cites this paper
• Identification of Target Genes of Antiarrhythmic Traditional Chinese Medicine Wenxin Keli

  2020cites this paper
• NAD+ Metabolism as an Emerging Therapeutic Target for Cardiovascular Diseases Associated With Sudden Cardiac Death

  2020cites this paper
• Nav channels in cancers: Non-classical roles

  2020cites this paper
• Potential roles of GATA binding protein 5 in cardiovascular diseases.

  2020influential citation
• Life Cycle of the Cardiac Voltage-Gated Sodium Channel NaV1.5

  2020cites this paper
• Structural basis of cytoplasmic NaV1.5 and NaV1.4 regulation

  2020cites this paper
• Voltage-gated Sodium Channels and Blockers: An Overview and Where Will They Go?

  2019cites this paper
• Amiodarone-induced life-threatening torsade de pointes in an end-stage lung cancer patient receiving gefitinib

  2019cites this paper
• Cardioneuroablation in the Management of Vasovagal Syncope, Sinus Node Dysfunction and Functional Atrioventricular Block: Patient Selection Based on Supporting Evidence.

  2019cites this paper
• Highlight article: Dysfunctional Cav1.2 channel in Timothy syndrome, from cell to bedside

  2019cites this paper
• Acquired long QT syndrome in chronic kidney disease patients

  2019influential citation
• The role of mexiletine in the management of long QT syndrome.

  2018cites this paper