(Q36931645)

English

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel

scientific article published on 22 April 2015

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scholarly article

1 reference

Europe PubMed Central

17 August 2017

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel (English)

1 reference

Europe PubMed Central

17 August 2017

Michael J Ackerman

9

object named as

Michael J Ackerman

1 reference

Europe PubMed Central

17 August 2017

author name string

Jamie D Kapplinger

1

1 reference

Europe PubMed Central

17 August 2017

John R Giudicessi

2

1 reference

Europe PubMed Central

17 August 2017

Dan Ye

3

1 reference

Europe PubMed Central

17 August 2017

David J Tester

4

1 reference

Europe PubMed Central

17 August 2017

Thomas E Callis

5

1 reference

Europe PubMed Central

17 August 2017

Carmen R Valdivia

6

1 reference

Europe PubMed Central

17 August 2017

Jonathan C Makielski

7

1 reference

Europe PubMed Central

17 August 2017

Arthur A Wilde

8

1 reference

Europe PubMed Central

17 August 2017

publication date

22 April 2015

1 reference

Europe PubMed Central

17 August 2017

Circulation: Cardiovascular Genetics

1 reference

Europe PubMed Central

17 August 2017

8

1 reference

Europe PubMed Central

17 August 2017

4

1 reference

Europe PubMed Central

17 August 2017

582-595

1 reference

Europe PubMed Central

17 August 2017

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Genetic analysis, in silico prediction, and family segregation in long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

High prevalence of genetic variants previously associated with LQT syndrome in new exome data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Natural history of Brugada syndrome: insights for risk stratification and management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Representation of functional information in the SWISS-PROT data bank

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

29 September 2017

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

27 June 2018

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4878676

4 September 2018

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/25904541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

https://pubmed.ncbi.nlm.nih.gov/25904541

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1161/CIRCGENETICS.114.000831

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

1 reference

Europe PubMed Central

17 August 2017

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