Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2 (Q33159536)

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18 January 2020

title

Overlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2 (English)

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18 January 2020

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2

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18 January 2020

Nicole Schmitt

3

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18 January 2020

Ryan Pfeiffer

4

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18 January 2020

Charles Antzelevitch

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18 January 2020

Charles Antzelevitch

12

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18 January 2020

8

Martin Borggrefe

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18 January 2020

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Rainer Schimpf

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18 January 2020

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Christian Wolpert

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18 January 2020

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Christian Veltmann

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18 January 2020

1

Jonathan M Cordeiro

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18 January 2020

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Elena Burashnikov

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18 January 2020

author name string

Vladislav V Nesterenko

5

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18 January 2020

publication date

1 December 2010

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Canadian Journal of Physiology and Pharmacology

18 January 2020

published in

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18 January 2020

volume

88

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18 January 2020

issue

12

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18 January 2020

page(s)

1181-1190

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Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

18 January 2020

cites work

1 reference

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A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.

21 June 2018

1 reference

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

21 June 2018

1 reference

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SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Functional characterization of the common amino acid 897 polymorphism of the cardiac potassium channel KCNH2 (HERG).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes

21 June 2018

1 reference

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Molecular and cellular mechanisms of cardiac arrhythmias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Fast inactivation causes rectification of the IKr channel

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Two components of the delayed rectifier K+ current in ventricular myocytes of the guinea pig type. Theoretical formulation and their role in repolarization

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076201

Phenotypic differences in transient outward K+ current of human and canine ventricular myocytes: insights into molecular composition of ventricular Ito.

21 June 2018

1 reference

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

21 January 2018

1 reference

KCNQ channels are involved in the regulatory volume decrease response in primary neonatal rat cardiomyocytes.

21 January 2018

1 reference

A dynamic model of the cardiac ventricular action potential. I. Simulations of ionic currents and concentration changes

21 January 2018

1 reference

Association between HERG K897T polymorphism and QT interval in middle-aged Finnish women

21 January 2018

1 reference

Compound mutations: a common cause of severe long-QT syndrome.

21 January 2018

1 reference

A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization

21 January 2018

1 reference

Common Genetic Variation in KCNH2 Is Associated With QT Interval Duration

21 January 2018

1 reference

Common Variants in Myocardial Ion Channel Genes Modify the QT Interval in the General Population

21 January 2018

1 reference

Transient outward current in human ventricular myocytes of subepicardial and subendocardial origin

21 January 2018

1 reference

12 December 2020

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

1 reference

12 December 2020

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects

1 reference

12 December 2020

Defective human Ether-à-go-go-related gene trafficking linked to an endoplasmic reticulum retention signal in the C terminus

1 reference

12 December 2020

Identifiers

DOI

10.1139/Y10-094

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18 January 2020

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18 January 2020

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