(Q36996166)

17 August 2017

R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation (English)

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17 August 2017

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Brian P Delisle

13

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Pascale Guicheney

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Pascale Guicheney

12

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Michael J Ackerman

10

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Michael J Ackerman

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17 August 2017

Daniel C Bartos

1

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17 August 2017

Sabine Duchatelet

2

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17 August 2017

Don E Burgess

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17 August 2017

Didier Klug

4

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17 August 2017

Isabelle Denjoy

5

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17 August 2017

Rachel Peat

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17 August 2017

Jean-Marc Lupoglazoff

7

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17 August 2017

Véronique Fressart

8

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17 August 2017

Myriam Berthet

9

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17 August 2017

Craig T January

11

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17 August 2017

17 September 2010

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17 August 2017

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17 August 2017

8

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17 August 2017

1

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17 August 2017

48-55

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

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Mutations in sodium channel β1- and β2-subunits associated with atrial fibrillation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Epidemiology of atrial fibrillation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

A multiscale model linking ion-channel molecular dynamics and electrostatics to the cardiac action potential

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Structure of KCNE1 and Implications for How It Modulates the KCNQ1 Potassium Channel † ‡

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Prevalence of early-onset atrial fibrillation in congenital long QT syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Genes and atrial fibrillation: a new look at an old problem

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

KCNQ1 gain-of-function mutation in familial atrial fibrillation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

The slow component of the delayed rectifier potassium current in undiseased human ventricular myocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

A novel computational model of the human ventricular action potential and Ca transient

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

[Atrial fibrillation in the long QT syndrome].

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Restricting excessive cardiac action potential and QT prolongation: a vital role for IKs in human ventricular muscle.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

Rapid and slow components of delayed rectifier current in human atrial myocytes.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3706092

[KCNE3 R53H substitution in familial atrial fibrillation]

4 September 2018

1 reference

12 December 2020

Prevalence and significance of an isolated long QT interval in elite athletes

1 reference

12 December 2020

Kv7.1 in atrial fibrillation

1 reference

12 December 2020

A case of term mors in utero in a chromosome 11p linked long QT syndrome family

1 reference

12 December 2020

10.1016/J.HRTHM.2010.09.010

Identifiers

DOI

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

20850564

1 reference