The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology. (Q38585131)

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23 February 2020

review article

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title

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology (English)

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23 February 2020

part of the series

Gene Wiki Review Series

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3

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2

Arthur A M Wilde

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23 February 2020

author name string

Christiaan C Veerman

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1

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English

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publication date

8 September 2015

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volume

573

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23 February 2020

page(s)

177-187

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23 February 2020

issue

2

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Cardiac conduction defects associate with mutations in SCN5A

23 February 2020

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12 December 2020

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

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A molecular link between the sudden infant death syndrome and the long-QT syndrome

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A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome

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Homozygotous mutation of the SCN5A gene responsible for congenital long QT syndrome with 2/1 atrioventricular block

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Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

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A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation

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Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system

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Contribution of sodium channel mutations to bradycardia and sinus node dysfunction in LQT3 families

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Non-equilibrium gating in cardiac Na+ channels: an original mechanism of arrhythmia

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Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel

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A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation

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The effect of the cardiac membrane potential on the rapid availability of the sodium-carrying system

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A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels

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Cloning and initial characterization of the human cardiac sodium channel (SCN5A) promoter.

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The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel

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Requirement of neuronal- and cardiac-type sodium channels for murine sinoatrial node pacemaking

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SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

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Tandem promoters and developmentally regulated 5'- and 3'-mRNA untranslated regions of the mouse Scn5a cardiac sodium channel

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Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

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Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

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The intercalated disk as a single functional unit

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Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death

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12 December 2020

A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families

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12 December 2020

Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes

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12 December 2020

Sinus node dysfunction following targeted disruption of the murine cardiac sodium channel gene Scn5a

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12 December 2020

Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants

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12 December 2020

A novel polyclonal antibody specific for the Na(v)1.5 voltage-gated Na(+) channel 'neonatal' splice form

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12 December 2020

Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms

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12 December 2020

Right ventricular fibrosis and conduction delay in a patient with clinical signs of Brugada syndrome: a combined electrophysiological, genetic, histopathologic, and computational study.

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12 December 2020

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

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12 December 2020

A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y

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12 December 2020

SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.

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12 December 2020

Overlap syndrome of cardiac sodium channel disease in mice carrying the equivalent mutation of human SCN5A-1795insD

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Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities

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12 December 2020

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

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12 December 2020

NF-kappaB-dependent transcriptional regulation of the cardiac scn5a sodium channel by angiotensin II.

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12 December 2020

Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia

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12 December 2020

Cardiac sodium channel gene variants and sudden cardiac death in women.

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12 December 2020

Cardiac sodium channel mutation in atrial fibrillation.

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12 December 2020

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation

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12 December 2020

Alternative splicing of Nav1.5: an electrophysiological comparison of 'neonatal' and 'adult' isoforms and critical involvement of a lysine residue.

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12 December 2020

Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans

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12 December 2020

Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome

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12 December 2020

Pathophysiology and pharmacology of the cardiac "late sodium current.".

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12 December 2020

A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation

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12 December 2020

The cardiac sodium channel displays differential distribution in the conduction system and transmural heterogeneity in the murine ventricular myocardium

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12 December 2020

Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans

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12 December 2020

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae

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12 December 2020

Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology

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Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

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12 December 2020

A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype

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12 December 2020

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome

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12 December 2020

Genetic variation in SCN10A influences cardiac conduction

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12 December 2020

Several common variants modulate heart rate, PR interval and QRS duration

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12 December 2020

Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome

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12 December 2020

Structure and function of splice variants of the cardiac voltage-gated sodium channel Na(v)1.5

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12 December 2020

Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.

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12 December 2020

A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease

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12 December 2020

Alternative promoter usage and splicing of the human SCN5A gene contribute to transcript heterogeneity

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12 December 2020

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

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12 December 2020

ST segment elevation by current-to-load mismatch: an experimental and computational study

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12 December 2020

Homozygous mutation in SCN5A associated with atrial quiescence, recalcitrant arrhythmias, and poor capture thresholds

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12 December 2020

Y1767C, a novel SCN5A mutation, induces a persistent Na+ current and potentiates ranolazine inhibition of Nav1.5 channels

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12 December 2020

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

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12 December 2020

Na(V)1.5 enhances breast cancer cell invasiveness by increasing NHE1-dependent H(+) efflux in caveolae

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12 December 2020

SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study.

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12 December 2020

Genome-wide association studies of the PR interval in African Americans

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12 December 2020

Common genetic variants, QT interval, and sudden cardiac death in a Finnish population-based study

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12 December 2020

Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization

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12 December 2020

The use of ranolazine to facilitate electrical cardioversion in cardioversion-resistant patients: a case series

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12 December 2020

Genetic and clinical aspects of Brugada syndrome: an update.

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12 December 2020

Reactive oxygen species suppress cardiac NaV1.5 expression through Foxo1.

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12 December 2020

Clinical Assessment of the Pathogenicity of Unknown Variants in Long-QT Syndrome: Does the Pendulum Swing Back?

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12 December 2020

A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype

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12 December 2020

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer

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12 December 2020

Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q

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12 December 2020

Functional Nav1.8 channels in intracardiac neurons: the link between SCN10A and cardiac electrophysiology

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12 December 2020

TBX5 drives Scn5a expression to regulate cardiac conduction system function

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12 December 2020

Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy

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12 December 2020

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

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12 December 2020

Nav1.5 sodium channels in macrophages in multiple sclerosis lesions.

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12 December 2020

R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy

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12 December 2020

Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip

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12 December 2020

SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities

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The contradictory genetics of atrial fibrillation: the growing gap between knowledge and clinical implications.

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12 December 2020

Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk

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12 December 2020

Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans

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12 December 2020

Post-translational modifications of the cardiac Na channel: contribution of CaMKII-dependent phosphorylation to acquired arrhythmias

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12 December 2020

Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects

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12 December 2020

A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome

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12 December 2020

Genomics of cardiac electrical function

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12 December 2020

Genetics of sudden cardiac death caused by ventricular arrhythmias

1 reference

12 December 2020

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype

1 reference

12 December 2020

Sodium channels, inherited epilepsy, and antiepileptic drugs

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12 December 2020

A common genetic variant within SCN10A modulates cardiac SCN5A expression

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12 December 2020

Targeting sodium channels in cardiac arrhythmia

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12 December 2020

The voltage sensor module in sodium channels

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12 December 2020

Expression of neonatal Nav1.5 in human brain astrocytoma and its effect on proliferation, invasion and apoptosis of astrocytoma cells.

1 reference

12 December 2020

Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.

1 reference

12 December 2020

Potent inhibition by ropivacaine of metastatic colon cancer SW620 cell invasion and NaV1.5 channel function

1 reference

12 December 2020

Deletion of FoxO1 leads to shortening of QRS by increasing Na(+) channel activity through enhanced expression of both cardiac NaV1.5 and β3 subunit

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12 December 2020

Epidemiology of atrial fibrillation: European perspective

1 reference

12 December 2020

Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease

1 reference

12 December 2020

Gain-of-function mutation of the SCN5A gene causes exercise-induced polymorphic ventricular arrhythmias.

1 reference

12 December 2020

Genetic and clinical advances in congenital long QT syndrome

1 reference

12 December 2020

Ranolazine in the treatment of atrial fibrillation: Results of the dose-ranging RAFFAELLO (Ranolazine in Atrial Fibrillation Following An ELectricaL CardiOversion) study.

1 reference

12 December 2020

Gating pore currents are defects in common with two Nav1.5 mutations in patients with mixed arrhythmias and dilated cardiomyopathy

1 reference

12 December 2020

Regulation of SCN5A by microRNAs: miR-219 modulates SCN5A transcript expression and the effects of flecainide intoxication in mice.

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12 December 2020

Regulation of the cardiac Na+ channel NaV1.5 by post-translational modifications.

1 reference

12 December 2020

Na+ channel function, regulation, structure, trafficking and sequestration

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12 December 2020

Antiarrhythmic properties of ranolazine: A review of the current evidence.

1 reference

12 December 2020

An investigation of the association of the H558R polymorphism of the SCN5A gene with idiopathic cardiac conduction disorders.

1 reference

12 December 2020

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel

1 reference

12 December 2020

How do voltage-gated sodium channels enhance migration and invasiveness in cancer cells?

1 reference

12 December 2020

The effects of antiarrhythmic drugs, stimulation frequency, and potassium-induced resting membrane potential changes on conduction velocity and dV/dtmax in guinea pig myocardium

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12 December 2020

Cardiomyopathy due to chronic tachycardias

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12 December 2020

The steady state TTX-sensitive ("window") sodium current in cardiac Purkinje fibres

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12 December 2020

Slow sodium channel inactivation and the modulated receptor hypothesis Application to phenobarbital

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12 December 2020

Class 1 antiarrhythmic drugs--characteristic electrocardiographic differences when assessed by atrial and ventricular pacing

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12 December 2020

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

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12 December 2020

Functional association of the beta 1 subunit with human cardiac (hH1) and rat skeletal muscle (mu 1) sodium channel alpha subunits expressed in Xenopus oocytes

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12 December 2020

Movement of the Na+ channel inactivation gate during inactivation.

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12 December 2020

Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

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12 December 2020

Resolution of cardiomyopathy after ablation of atrial flutter

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12 December 2020

Novel, ultraslow inactivating sodium current in human ventricular cardiomyocytes

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12 December 2020

Comparison of slow inactivation in human heart and rat skeletal muscle Na+ channel chimaeras

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12 December 2020

10.1016/J.GENE.2015.08.062

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