Evidence map›Paper›PMID 29752375›Full record

ArticleCirculation. Arrhythmia and electrophysiology2018

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the

Jennifer L Smith, David J Tester, Allison R Hall, Don E Burgess, Chun-Chun Hsu, Samy Claude Elayi, Corey L Anderson, Craig T January, Jonathan Z Luo, Dustin N Hartzel and 5 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Arrhythmia and electrophysiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 28% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Sudden Death-AssociatedbioRxiv : the preprint server for biology · 2025
    Article
  3. Proceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  4. H1153Y-International journal of molecular sciences · 2021
    Article
  5. Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
    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

15 authors at 6 institutions in 3 countries.

Jennifer L SmithDepartment of Physiology, Cardiovascular Research Center, Center for Muscle Biology, University of Kentucky, Lexington (J.L.S., A.R.H., D.E.B., B.P.D.).
David J TesterDepartments of Cardiovascular Diseases, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Divisions of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (D.J.T., M.J.A.).
Allison R HallDepartment of Physiology, Cardiovascular Research Center, Center for Muscle Biology, University of Kentucky, Lexington (J.L.S., A.R.H., D.E.B., B.P.D.).
Don E BurgessDepartment of Physiology, Cardiovascular Research Center, Center for Muscle Biology, University of Kentucky, Lexington (J.L.S., A.R.H., D.E.B., B.P.D.).
Chun-Chun HsuSchool of Respiratory Therapy, College of Medicine, Taipei Medical University, Taiwan (C.-C.H.).
Samy Claude ElayiUniversity of Kentucky, Gill Heart Institute and VAMC, Cardiology, Lexington (S.C.E.).
Corey L AndersonCellular and Molecular Arrhythmias Research Program, Department of Medicine, University of Wisconsin, Madison (C.L.A., C.T.J.).
Craig T JanuaryCellular and Molecular Arrhythmias Research Program, Department of Medicine, University of Wisconsin, Madison (C.L.A., C.T.J.).
Jonathan Z LuoDepartment of Molecular and Functional Genomics and Genomic Medicine Institute, Geisinger Clinic, Danville, PA (J.Z.L., D.N.H., U.L.M., M.F.M., T.M.).
Dustin N HartzelDepartment of Molecular and Functional Genomics and Genomic Medicine Institute, Geisinger Clinic, Danville, PA (J.Z.L., D.N.H., U.L.M., M.F.M., T.M.).
Uyenlinh L MirshahiDepartment of Molecular and Functional Genomics and Genomic Medicine Institute, Geisinger Clinic, Danville, PA (J.Z.L., D.N.H., U.L.M., M.F.M., T.M.).
Michael F MurrayDepartment of Molecular and Functional Genomics and Genomic Medicine Institute, Geisinger Clinic, Danville, PA (J.Z.L., D.N.H., U.L.M., M.F.M., T.M.).
Tooraj MirshahiDepartment of Molecular and Functional Genomics and Genomic Medicine Institute, Geisinger Clinic, Danville, PA (J.Z.L., D.N.H., U.L.M., M.F.M., T.M.).
Michael J AckermanDepartments of Cardiovascular Diseases, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Divisions of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (D.J.T., M.J.A.).
Brian P DelisleDepartment of Physiology, Cardiovascular Research Center, Center for Muscle Biology, University of Kentucky, Lexington (J.L.S., A.R.H., D.E.B., B.P.D.). brian.delisle@uky.edu.
National Institute of Genomic Medicine · MXUniversity of Kentucky · USMayo Clinic · USUniversity of Wisconsin–Madison · USHsuan Chuang University · TWLexington VA Health Care System · US

Funding

Cardiac Channel Mutations in Sudden Infant Death Syndrome (SIDS)R01HD042569 · NICHD · MAYO CLINIC ROCHESTER · PI ACKERMAN, MICHAEL JOHN · 2002 to 2017
$6.9M
American Heart Association-American Stroke Association 15CVGPSD27580000American Heart Association-American Stroke Association 17CCRG33700289NICHD NIH HHS R01 HD042569
6 · The paper itself

Abstract

backgroundHeterologous functional validation studies of putative long-QT syndrome subtype 2-associated variants clarify their pathological potential and identify disease mechanism(s) for most variants studied. The purpose of this study is to clarify the pathological potential for rare nonsynonymous

methodsGenetic testing of 292 sudden infant death syndrome cases identified 9

resultsWestern blot and voltage-clamping analyses of cells expressing E90K-, G294V-, R791W-, and R1005W-Kv11.1 channels demonstrated these variants express and generate peak Kv11.1 current levels similar to cells expressing wild-type-Kv11.1 channels, but R791W- and R1005W-Kv11.1 channels accelerated deactivation and activation gating, respectively. Electronic health records of patients with the sudden infant death syndrome-linked

conclusionsWe conclude that these rare Kv11.1 missense variants are not long-QT syndrome subtype 2-causative variants and therefore do not represent the pathogenic substrate for sudden infant death syndrome in the variant-positive infants.

Indexed as

Mutation, MissenseAction PotentialsComputer SimulationElectronic Health RecordsERG1 Potassium ChannelFemaleGenetic Association StudiesGenetic Predisposition to DiseaseHeart RateHEK293 CellsHumansInfantLong QT SyndromeMaleModels, CardiovascularPhenotypeERG1 Potassium ChannelKCNH2 protein, humandeath, suddengenetic testinghuman geneticsion channelslong QT syndromepotassium channelssudden infant death

Identifiers

PMID29752375
PMCPMC11081002
OpenAlexW2800721189

What OpenQuestion holds

Textmetadata
LicenceTDM
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.