Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias (Q46240331)

20 December 2017

title

Characterization of 2 genetic variants of Na(v) 1.5-arginine 689 found in patients with cardiac arrhythmias (English)

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20 December 2017

author

Jan P. Kucera

4

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Hugues Abriel

8

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author name string

Valentin Sottas

1

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Jean-Sébastien Rougier

2

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Florian Jousset

3

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Anna Shestak

5

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Leonid M Makarov

6

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Elena V Zaklyazminskaya

7

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publication date

20 May 2013

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Journal of Cardiovascular Electrophysiology

published in

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volume

24

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issue

9

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page(s)

1037-1046

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The fifteen years of discoveries that shaped molecular electrophysiology: time for appraisal

cites work

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Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel

21 January 2018

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Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations

21 January 2018

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

21 January 2018

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Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome.

21 January 2018

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Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro

21 January 2018

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Cardiomyocytes derived from pluripotent stem cells recapitulate electrophysiological characteristics of an overlap syndrome of cardiac sodium channel disease

21 January 2018

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Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test

21 January 2018

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An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

21 January 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation

21 January 2018

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Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome

21 January 2018

1 reference

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

21 January 2018

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Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing

21 January 2018

1 reference

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

21 January 2018

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A model for human ventricular tissue

21 January 2018

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Ionic current basis of electrocardiographic waveforms: a model study

21 January 2018

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Pathophysiology of the cardiac late Na current and its potential as a drug target

21 January 2018

1 reference

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

21 January 2018

1 reference

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome

21 January 2018

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Cardiac sodium channel dysfunction in sudden infant death syndrome.

21 January 2018

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Genomic risk factors in sudden infant death syndrome

21 January 2018

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Genetics of sudden death: focus on inherited channelopathies.

21 January 2018

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Cardiac sodium channel NaV1.5 distribution in myocytes via interacting proteins: the multiple pool model

21 January 2018

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A multi-modal composition of the late Na+ current in human ventricular cardiomyocytes

21 January 2018

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Simulation and mechanistic investigation of the arrhythmogenic role of the late sodium current in human heart failure

21 January 2018

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Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia

21 January 2018

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

21 January 2018

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Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome

21 January 2018

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The S1103Y cardiac sodium channel variant is associated with implantable cardioverter-defibrillator events in blacks with heart failure and reduced ejection fraction

21 January 2018

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Long QT syndrome: reduced repolarization reserve and the genetic link

21 January 2018

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Common genetic variants in sudden cardiac death

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/JCE.12173

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20 December 2017

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20 December 2017