Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy (Q33940611)

30 July 2017

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy (English)

1 reference

30 July 2017

1 reference

Thomas M Beckermann

1

1 reference

30 July 2017

Karen McLeod

2

1 reference

30 July 2017

Victoria Murday

3

1 reference

30 July 2017

Franck Potet

4

1 reference

30 July 2017

Alfred L George

5

1 reference

30 July 2017

9 May 2014

1 reference

30 July 2017

1 reference

30 July 2017

11

1 reference

30 July 2017

8

1 reference

30 July 2017

1446-1453

1 reference

Molecular and genetic basis of sudden cardiac death

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Elevated cytosolic Na+ increases mitochondrial formation of reactive oxygen species in failing cardiac myocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Elevated cytosolic Na+ decreases mitochondrial Ca2+ uptake during excitation-contraction coupling and impairs energetic adaptation in cardiac myocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Intracellular Na+ regulation in cardiac myocytes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

[Na+]i handling in the failing human heart

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Molecular mechanism for an inherited cardiac arrhythmia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4108519

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

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24815523

12 December 2020

inferred from PubMed ID database lookup

The response of Na(V)1.3 sodium channels to ramp stimuli: multiple components and mechanisms

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24815523

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.HRTHM.2014.04.042

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/indzzywunjatbix63io5ib62yy

30 July 2022

release_indzzywunjatbix63io5ib62yy

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/indzzywunjatbix63io5ib62yy

30 July 2022

https://api.fatcat.wiki/v0/release/indzzywunjatbix63io5ib62yy

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/indzzywunjatbix63io5ib62yy

1 reference

30 July 2022