Evidence map›Paper›PMID 40897676›Full record

ArticleClinical genetics2025

Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function.

Johanne Piotrowski, Élise Schaefer, Michael Kuntz, Virginie Bois, Franz Schieffer, Laurence Jesel, Margaux Biehler, Anne De Saint Martin, Sarah Baer

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

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

9 authors.

Johanne PiotrowskiClinical Genetics Unit, Institut de Génétique Médicale D'alsace (IGMA), Strasbourg, France.
Élise SchaeferClinical Genetics Unit, Institut de Génétique Médicale D'alsace (IGMA), Strasbourg, France.
Michael KuntzCardiologie Infantile, Strasbourg University Hospital, Strasbourg, France.
Virginie BoisCardiologie Infantile, Strasbourg University Hospital, Strasbourg, France.
Franz SchiefferDepartment of Pediatrics, Hôpitaux Civils de Colmar, Colmar, France.
Laurence JeselDivision of Cardiovascular Medicine, Strasbourg University Hospital, Strasbourg, France.
Margaux BiehlerLaboratories of Genetic Diagnosis, Strasbourg University Hospitals, Strasbourg, France.
Anne De Saint MartinDepartment of Neuropediatrics, CréER, ERN EpiCare, Strasbourg University Hospitals, Strasbourg, France.
Sarah BaerDepartment of Neuropediatrics, CréER, ERN EpiCare, Strasbourg University Hospitals, Strasbourg, France.ORCID 0000-0003-4951-2552

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the first known case of a 9-year-old male with early-onset epilepsy, syncope, and ictal asystole-requiring pacemaker implantation at the age of seven-associated with a pathogenic variant in FGF12.

Indexed as

EpilepsyFibroblast Growth FactorsHeart ArrestChildHumansMaleMutationPacemaker, ArtificialFGF12 protein, humanFibroblast Growth FactorsECGepileptic encephalopathyFGF12FHF1ictal asystole

Identifiers

PMID40897676
PMCPMC12405065

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.