Evidence map›Paper›PMID 32998306›Full record

ReviewInternational journal of molecular sciences2020

Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?

Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Josep Brugada, Ramon Brugada

Open access · goldAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.

0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
5.5field-weighted citation impact, top 3% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

32 citing papers in PubMed, 54 citations in OpenAlex.

  1. Article
  2. Article
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  4. Article
  5. Hyperkalemia-induced Brugada phenocopy: a systematic review of case reports.Clinical research in cardiology : official journal of the German Cardiac Society · 2025
    Review
  6. Article
  7. Zebrafish as a Model System for Brugada Syndrome.Reviews in cardiovascular medicine · 2024
    Review
  8. Article
  9. Review
  10. Article
  11. Identification of a novelFrontiers in cardiovascular medicine · 2024
    Article
  12. Article
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  14. Review
  15. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

Oscar CampuzanoCardiovascular Genetics Centre, University of Girona-IDIBGI, 17190 Girona, Spain.ORCID 0000-0001-5298-5276
Georgia Sarquella-BrugadaMedical Science Department, School of Medicine, University of Girona, 17003 Girona, Spain.
Sergi CesarArrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, 08950 Barcelona, Spain.ORCID 0000-0002-2798-1756
Elena ArbeloCentro Investigación Biomédica en Red: Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.
Josep BrugadaCentro Investigación Biomédica en Red: Enfermedades Cardiovasculares (CIBERCV), 28029 Madrid, Spain.
Ramon BrugadaCardiovascular Genetics Centre, University of Girona-IDIBGI, 17190 Girona, Spain.
Hospital Sant Joan de Déu Barcelona · ESUniversitat de Girona · ES

Funding

Fundacio La Caixa LCF/PR/GN19/50320002Fundació La Caixa LCF/PR/GN16/50290001Instituto Salud Carlos III FIS PI16/01203Instituto Salud Carlos III PI17/01690
6 · The paper itself

Abstract

Brugada syndrome is a rare inherited arrhythmogenic disease leading to ventricular fibrillation and high risk of sudden death. In 1998, this syndrome was linked with a genetic variant with an autosomal dominant pattern of inheritance. To date, rare variants identified in more than 40 genes have been potentially associated with this disease. Variants in regulatory regions, combinations of common variants and other genetic alterations are also proposed as potential origins of Brugada syndrome, suggesting a polygenic or oligogenic inheritance pattern. However, most of these genetic alterations remain of questionable causality; indeed, rare pathogenic variants in the

Indexed as

Genetic Predisposition to DiseaseMutationAllelesBrugada SyndromeDeath, Sudden, CardiacElectrocardiographyGene ExpressionGene FrequencyGenes, DominantGenetic TestingHumansMultifactorial InheritanceNAV1.5 Voltage-Gated Sodium ChannelPhenotypeVentricular FibrillationNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanarrhythmiasBrugada syndromegeneticssudden cardiac death

Identifiers

PMID32998306
PMCPMC7582739
OpenAlexW3088909760

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.