Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome. (Q34047388)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20025708%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

title

Dual variation in SCN5A and CACNB2b underlies the development of cardiac conduction disease without Brugada syndrome (English)

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15 January 2020

1

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15 January 2020

Ryan Pfeiffer

4

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15 January 2020

Charles Antzelevitch

11

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15 January 2020

Charles Antzelevitch

12

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15 January 2020

8

Guido D Pollevick

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15 January 2020

6

Jonathan M Cordeiro

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15 January 2020

10

Elena Burashnikov

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15 January 2020

Alejandra Guerchicoff

5

object named as

Alejandra Guerchicoff

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15 January 2020

Hector Barajas-Martinez

2

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Hector Barajas-Martinez

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15 January 2020

Vladislav V Nesterenko

3

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Vladislav V Nesterenko

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15 January 2020

author name string

Anne B Curtis

7

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15 January 2020

Yuesheng Wu

9

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15 January 2020

publication date

16 December 2009

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Pacing and Clinical Electrophysiology

15 January 2020

published in

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15 January 2020

volume

33

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15 January 2020

issue

3

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15 January 2020

page(s)

274-285

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

15 January 2020

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Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome

28 July 2018

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

28 July 2018

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

28 July 2018

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Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations

28 July 2018

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Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome

28 July 2018

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Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction

28 July 2018

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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

28 July 2018

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Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome

28 July 2018

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Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine

28 July 2018

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HERG trafficking and pharmacological rescue of LQTS-2 mutant channels.

28 July 2018

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Molecular basis of isolated cardiac conduction disease.

28 July 2018

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Therapy for the Brugada syndrome

28 July 2018

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Role of sodium and calcium channel block in unmasking the Brugada syndrome

28 July 2018

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Mouse model of SCN5A-linked hereditary Lenègre's disease: age-related conduction slowing and myocardial fibrosis

28 July 2018

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Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

28 July 2018

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Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)

28 July 2018

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

28 July 2018

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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

28 July 2018

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Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

28 July 2018

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Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family

28 July 2018

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A sodium-channel mutation causes isolated cardiac conduction disease

28 July 2018

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Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts

28 July 2018

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

28 July 2018

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Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST-segment elevation

28 July 2018

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Cardiac conduction defects associate with mutations in SCN5A

28 July 2018

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HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects

28 July 2018

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Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

28 July 2018

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Electrophysiologic effects of acute myocardial ischemia: a theoretical study of altered cell excitability and action potential duration

28 July 2018

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

28 July 2018

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

28 July 2018

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

21 January 2018

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

21 January 2018

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Cellular and ionic basis for the sex-related difference in the manifestation of the Brugada syndrome and progressive conduction disease phenotypes

28 October 2018

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Na+ channel mutation leading to loss of function and non-progressive cardiac conduction defects

28 October 2018

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Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block

28 October 2018

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Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.

28 October 2018

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Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients

28 October 2018

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PubMed

12 December 2020

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12 December 2020

Sex hormone and gender difference--role of testosterone on male predominance in Brugada syndrome

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12 December 2020

Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands

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PubMed

12 December 2020

10.1111/J.1540-8159.2009.02642.X

Identifiers

DOI

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release_ds46lu6chnaadj2tjaqhfksika

15 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ds46lu6chnaadj2tjaqhfksika

24 November 2022

mapped directly with Wikidata item

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15 January 2020

PubMed publication ID

20025708

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