(Q36334002)

13 August 2017

0 references

Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation (English)

1 reference

13 August 2017

1 reference

4

Ramon Brugada

1 reference

13 August 2017

Kui Hong

1

1 reference

13 August 2017

Jinzhu Hu

series ordinal

2

1 reference

13 August 2017

Jianhua Yu

series ordinal

3

1 reference

13 August 2017

11 April 2012

1 reference

European Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

20

1 reference

13 August 2017

11

1 reference

13 August 2017

1189-1192

1 reference

Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

Cardiac sodium channelopathies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

Sudden death associated with short-QT syndrome linked to mutations in HERG.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

Electrocardiographic pattern of Brugada syndrome disclosed by a febrile illness: clinical and therapeutic implications.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

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

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3476719

The Elusive Link Between LQT3 and Brugada Syndrome

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22490985

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Atrial fibrillation in patients with Brugada syndrome relationships of gene mutation, electrophysiology, and clinical backgrounds

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22490985

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.63

1 reference

Dimensions Publication ID

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

22490985

1 reference