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The genetic component of Brugada syndrome

Overview of attention for article published in Frontiers in Physiology, January 2013
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Title
The genetic component of Brugada syndrome
Published in
Frontiers in Physiology, January 2013
DOI 10.3389/fphys.2013.00179
Pubmed ID
Authors

Morten W. Nielsen, Anders G. Holst, Søren-Peter Olesen, Morten S. Olesen

Abstract

Brugada syndrome (BrS) is a clinical entity first described in 1992. BrS is characterized by ST-segment elevations in the right precordial leads and susceptibility to ventricular arrhythmias and sudden cardiac death. It affects young subjects, predominantly males, with structurally normal hearts. The prevalence varies with ethnicity ranging from 1:2,000 to 1:100,000 in different parts of the world. Today, hundreds of variants in 17 genes have been associated with BrS of which mutations in SCN5A, coding for the cardiac voltage-gated sodium channel, accounts for the vast majority. Despite this, approximately 70% of BrS cases cannot be explained genetically with the current knowledge. Moreover, the monogenic role of some of the variants previously described as being associated with BrS has been questioned by their occurrence in about 4% (1:23) of the general population as found in NHLBI GO Exome Sequencing Project (ESP) currently including approximately 6500 individuals. If we add the variants described in the five newest identified genes associated with BrS, they appear at an even higher prevalence in the ESP (1:21). The current standard treatment of BrS is an implantable cardioverter-defibrillator (ICD). The risk stratification and indications for ICD treatment are based on the ECG and on the clinical and family history. In this review we discuss the genetic basis of BrS.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 88 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Mexico 1 1%
Italy 1 1%
Switzerland 1 1%
Unknown 85 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 18 20%
Researcher 15 17%
Student > Bachelor 12 14%
Student > Master 8 9%
Student > Doctoral Student 5 6%
Other 18 20%
Unknown 12 14%
Readers by discipline Count As %
Medicine and Dentistry 30 34%
Agricultural and Biological Sciences 16 18%
Biochemistry, Genetics and Molecular Biology 11 13%
Neuroscience 4 5%
Unspecified 2 2%
Other 8 9%
Unknown 17 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 15 July 2013.
All research outputs
#20,196,270
of 22,714,025 outputs
Outputs from Frontiers in Physiology
#9,303
of 13,524 outputs
Outputs of similar age
#248,772
of 280,752 outputs
Outputs of similar age from Frontiers in Physiology
#243
of 398 outputs
Altmetric has tracked 22,714,025 research outputs across all sources so far. This one is in the 1st percentile – i.e., 1% of other outputs scored the same or lower than it.
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