Evidence map›Paper›PMID 31455979›Full record

ArticleInternational journal of legal medicine2019

Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac death.

Jacqueline Neubauer, Zizun Wang, Jean-Sébastien Rougier, Hugues Abriel, Claudine Rieubland, Deborah Bartholdi, Cordula Haas, Argelia Medeiros-Domingo

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In one paragraph

Article in International journal of legal medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.5field-weighted citation impact, top 31% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Biophysical mechanisms of myocardium sodium channelopathies.Pflugers Archiv : European journal of physiology · 2024
    Review
  6. Article
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

8 authors at 3 institutions in 1 country.

Jacqueline Neubauer *Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland. jacqueline.neubauer@irm.uzh.ch.ORCID http://orcid.org/0000-0002-9472-7803
Zizun Wang *Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.ORCID https://orcid.org/0000-0002-8889-6416
Jean-Sébastien RougierInstitute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
Hugues AbrielInstitute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland.
Claudine RieublandDepartment of Pediatrics, Division of Human Genetics, Inselspital, University of Bern, Bern, Switzerland.
Deborah BartholdiDepartment of Pediatrics, Division of Human Genetics, Inselspital, University of Bern, Bern, Switzerland.
Cordula HaasZurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland.
Argelia Medeiros-DomingoDepartment of Cardiology, Inselspital, University Hospital Bern, Bern, Switzerland.
University of Bern · CHUniversity of Zurich · CHUniversity Hospital of Bern · CH

Funding

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung 310030_165741Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung 320030_149456
6 · The paper itself

Abstract

Sudden arrhythmic death syndrome (SADS) in young individuals is a devastating and tragic event often caused by an undiagnosed inherited cardiac disease. Although post-mortem genetic testing represents a promising tool to elucidate potential disease-causing mechanisms in such autopsy-negative death cases, a variant interpretation is still challenging, and functional consequences of identified sequence alterations often remain unclear. Recently, we have identified a novel heterozygous missense variant (N1774H) in the Na

Indexed as

Mutation, MissensePedigreeDeath, Sudden, CardiacExome SequencingFemaleGenotypeHeterozygoteHumansInfantLong QT SyndromeMaleNAV1.5 Voltage-Gated Sodium ChannelPhenotypeYoung AdultNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanCo-segregation analysisExome sequencingLong QT syndromePatch-clamp analysisSCN5ASudden arrhythmic death syndrome

Identifiers

PMID31455979
OpenAlexW2970162205

What OpenQuestion holds

Textmetadata
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.