Evidence map›Paper›PMID 31698696›Full record

ArticleInternational journal of molecular sciences2019

Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the

Michelle M Monasky, Emanuele Micaglio, Daniela Giachino, Giuseppe Ciconte, Luigi Giannelli, Emanuela T Locati, Elisa Ramondini, Roberta Cotugno, Gabriele Vicedomini, Valeria Borrelli and 3 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
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

7 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Brugada Syndrome: Warning of a Systemic Condition?Frontiers in cardiovascular medicine · 2021
    Review
  5. Article
  6. NovelInternational journal of molecular sciences · 2020
    Article
  7. Brugada Syndrome: Oligogenic or Mendelian Disease?International journal of molecular sciences · 2020
    Review
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

13 authors.

Michelle M MonaskyArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Emanuele MicaglioArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Daniela GiachinoDepartment of Clinical and Biological Sciences, University of Turin, 10043 Orbassano, Italy.ORCID 0000-0002-3186-6726
Giuseppe CiconteArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Luigi GiannelliArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Emanuela T LocatiArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.ORCID 0000-0002-4488-0455
Elisa RamondiniArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Roberta CotugnoArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Gabriele VicedominiArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Valeria BorrelliArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Andrea GhiroldiStem Cells for Tissue Engineering Laboratory, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.
Luigi AnastasiaStem Cells for Tissue Engineering Laboratory, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.ORCID 0000-0002-0712-2161
Carlo PapponeArrhythmology Department, IRCCS Policlinico San Donato, 20097 San Donato Milanese, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the

Indexed as

Genetic Association StudiesAdultBase SequenceBrugada SyndromeCodon, NonsenseComputer SimulationFamilyFemaleHeterozygoteHumansMaleNAV1.5 Voltage-Gated Sodium ChannelPedigreeCodon, NonsenseNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanarrhythmiaBrugada syndromechannelopathyfamilygenetic testinghumansmutationnonsense mutationpremature stop codonSCN5Asodium channelsudden cardiac deathvariant

Identifiers

PMID31698696
PMCPMC6888117

What OpenQuestion holds

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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.