Evidence map›Paper›PMID 41582807›Full record

ArticleCirculation. Arrhythmia and electrophysiology2026

Phenotypic Severity of

Ayami Tano, Koichi Kato, Kohei Yamauchi, Hideyuki Jinzai, Takafumi Iguchi, Futoshi Toyoda, Yuichi Baba, Toru Kubo, Seiko Ohno, Takeru Makiyama and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Circulation. Arrhythmia and electrophysiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

12 authors.

Ayami TanoDepartment of Cardiovascular Medicine (A.T., K.K., K.Y., H.J., T.I., Y.N., M.H.), Shiga University of Medical Science, Otsu, Japan.ORCID 0000-0002-9553-1917
Koichi KatoDepartment of Cardiovascular Medicine (A.T., K.K., K.Y., H.J., T.I., Y.N., M.H.), Shiga University of Medical Science, Otsu, Japan.ORCID 0000-0002-6125-0789
Kohei YamauchiDepartment of Cardiovascular Medicine (A.T., K.K., K.Y., H.J., T.I., Y.N., M.H.), Shiga University of Medical Science, Otsu, Japan.ORCID 0009-0004-0348-2305
Hideyuki JinzaiDepartment of Cardiovascular Medicine (A.T., K.K., K.Y., H.J., T.I., Y.N., M.H.), Shiga University of Medical Science, Otsu, Japan.ORCID 0009-0008-0734-841X
Takafumi IguchiDepartment of Cardiovascular Medicine (A.T., K.K., K.Y., H.J., T.I., Y.N., M.H.), Shiga University of Medical Science, Otsu, Japan.
Futoshi ToyodaCentral Research Laboratory (F.T.), Shiga University of Medical Science, Otsu, Japan.ORCID 0000-0002-8412-6481
Yuichi BabaDepartment of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Nankoku, Japan (Y.B., T.K.).ORCID 0000-0003-2616-0443
Toru KuboDepartment of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Nankoku, Japan (Y.B., T.K.).ORCID 0000-0001-5681-8854
Seiko OhnoMedical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan (S.O.).ORCID 0000-0003-1209-8896
Takeru MakiyamaDepartment of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Japan (T.M.).ORCID 0000-0002-9471-5335
Yoshihisa NakagawaDepartment of Cardiovascular Medicine (A.T., K.K., K.Y., H.J., T.I., Y.N., M.H.), Shiga University of Medical Science, Otsu, Japan.ORCID 0000-0002-9411-9314
Minoru HorieDepartment of Cardiovascular Medicine (A.T., K.K., K.Y., H.J., T.I., Y.N., M.H.), Shiga University of Medical Science, Otsu, Japan.ORCID 0000-0002-9029-2339

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPathogenic

methodWe genetically screened a family who presented with sick sinus syndrome and sudden cardiac death. Whole-cell patch-clamp study using HEK293 (human embryonic kidney) cells coexpressing wild-type and variant

resultsThe proband carried compound heterozygous variants p.T1396P and p.G833R. The whole-cell mode patch-clamp techniques demonstrated that the p.T1396P showed a dominant-negative effect on the peak sodium currents (37% decrease in I

conclusionsOur findings suggest that coupled gating may be physiologically important for normal Na

Indexed as

BradycardiaHeart RateIon Channel GatingMutationNAV1.5 Voltage-Gated Sodium ChannelSick Sinus SyndromeAdultDNA Mutational AnalysisFemaleGenetic Predisposition to DiseaseHEK293 CellsHumansMalePatch-Clamp TechniquesPedigreePhenotypeNAV1.5 Voltage-Gated Sodium ChannelSCN5A protein, humanaction potentialsBrugada syndromeclinical relevancedimerizationsick sinus syndrome

Identifiers

PMID41582807
PMCPMC12911491

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.