Evidence map›Paper›PMID 33778442›Full record

ArticleCJC open2021

Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State.

Quentin Plumereau, Olivier Theriault, Valérie Pouliot, Adrien Moreau, Elodie Morel, Véronique Fressart, Isabelle Denjoy, Antoine Delinière, Francis Bessière, Philippe Chevalier and 2 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in CJC open, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.3field-weighted citation impact, top 38% 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

10 citing papers in PubMed, 8 citations in OpenAlex.

  1. SCN5AInternational journal of legal medicine · 2026
    Article
  2. Article
  3. Selectivity Filter Mutation in NaJACC. Clinical electrophysiology · 2026
    Article
  4. Influence of e-cigarettes and their constituents on cardiac rhythm and arrhythmias.American journal of physiology. Heart and circulatory physiology · 2026
    Review
  5. Article
  6. Article
  7. COMPUTATIONAL ANALYSIS OF THE NOVEL LQT3 MUTATIONS G1481V AND Q1491H IN MYOCARDIAL AND PURKINJE CELLS.Annual Modeling and Simulation Conference (ANNSIM). Annual Modeling and Simulation Conference (Online) · 2025
    Article
  8. Biophysical mechanisms of myocardium sodium channelopathies.Pflugers Archiv : European journal of physiology · 2024
    Review
  9. Review
  10. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 7 institutions in 3 countries.

Quentin PlumereauCERVO Brain Research Center, Quebec City, Quebec, Canada.
Olivier TheriaultCERVO Brain Research Center, Quebec City, Quebec, Canada.
Valérie PouliotCERVO Brain Research Center, Quebec City, Quebec, Canada.
Adrien MoreauInserm U1046, CNRS UMR 9214, Université de Montpellier, Montpellier, France.
Elodie MorelLyon Reference Center for Inherited Arrhythmias, Louis Pradel Cardiovascular Hospital, Bron, France.
Véronique FressartCentre de Génétique Moléculaire et Chromosomique, Hôpital Pitié-Salpêtrière, Paris, France.
Isabelle DenjoyHôpital Bichat Claude Bernard, Paris, France.
Antoine DelinièreLyon Reference Center for Inherited Arrhythmias, Louis Pradel Cardiovascular Hospital, Bron, France.
Francis BessièreLyon Reference Center for Inherited Arrhythmias, Louis Pradel Cardiovascular Hospital, Bron, France.
Philippe ChevalierLyon Reference Center for Inherited Arrhythmias, Louis Pradel Cardiovascular Hospital, Bron, France.
Tamer M Gamal El-DinDepartment of Pharmacology, University of Washington, Seattle, Washington, USA.
Mohamed ChahineCERVO Brain Research Center, Quebec City, Quebec, Canada.
Hôpital Louis Pradel · FRCentre de Génétique Moléculaire · FRHôpital Bichat-Claude-Bernard · FRUniversité Claude Bernard Lyon 1 · FRUniversité de Montpellier · FRUniversité Laval · CAUniversity of Washington · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNa

methodsThe Na

resultsThe Q1491H mutant channel exhibited a lower current density, a persistent Na

conclusionsThe 5- and 12-week-old infants displayed prolonged QT intervals. Our analyses of the Q1491H and G1481V mutations correlated with the clinical diagnosis. The observed biophysical dysfunctions associated with both mutations were most likely responsible for the sudden deaths of the 2 infants.

Identifiers

PMID33778442
PMCPMC7984979
OpenAlexW3092473600

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.