Evidence map›Paper›PMID 38547067›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2024

Brainstem depolarization-induced lethal apnea associated with gain-of-function

Nico A Jansen, Sandrine Cestèle, Silvia Sanchez Marco, Maarten Schenke, Kirsty Stewart, Jayesh Patel, Else A Tolner, Andreas Brunklaus, Massimo Mantegazza, Arn M J M van den Maagdenberg

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

Article in Proceedings of the National Academy of Sciences of the United States of America, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 27% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Hemiplegic migraine: genetics and pathophysiology.The Journal of clinical investigation · 2026
    Review
  2. Article
  3. Prime editing of a pathogenicScience translational medicine · 2026
    Article
  4. Review
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

10 authors at 6 institutions in 3 countries.

Nico A JansenDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333 ZC, The Netherlands.ORCID 0000-0001-9905-054X
Sandrine CestèleUniversité Côte d'Azur, Valbonne-Sophia Antipolis 06560, France.ORCID 0000-0002-5982-1562
Silvia Sanchez MarcoDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol, Bristol BS2 8BJ, United Kingdom.
Maarten SchenkeDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333 ZC, The Netherlands.
Kirsty StewartWest of Scotland Genetic Services, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom.
Jayesh PatelDepartment of Paediatric Neurology, Bristol Royal Hospital for Children, University Hospitals Bristol, Bristol BS2 8BJ, United Kingdom.
Else A TolnerDepartment of Human Genetics, Leiden University Medical Center, Leiden 2333 ZC, The Netherlands.ORCID 0000-0002-6501-9971
Andreas Brunklaus *The Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow G51 4TF, United Kingdom.
Massimo Mantegazza *Université Côte d'Azur, Valbonne-Sophia Antipolis 06560, France.ORCID 0000-0002-1070-7929
Arn M J M van den Maagdenberg *Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZC, The Netherlands.
Leiden University Medical Center · NLBristol Royal Hospital for Children · GBInserm · FRQueen Elizabeth University Hospital · GBRoyal Hospital for Children · GBUniversité Côte d'Azur · FR

Funding

Epilepsiefonds (Dutch National Epilepsy Fund) 2017-10Fundación Alicia Koplowitz (Alicia Koplowitz Foundation)Investissements d'Avenir-Laboratory of Excellence LabEx ICST ANR-11-LABX-0015-01University Côte d'Azur-IDEX Jedi ANR-15-IDEX-01
6 · The paper itself

Abstract

Apneic events are frightening but largely benign events that often occur in infants. Here, we report apparent life-threatening apneic events in an infant with the homozygous

Indexed as

ApneaGain of Function MutationSodium Channel BlockersAnimalsBrain StemFemaleHEK293 CellsHumansInfantMiceMigraine with AuraNAV1.1 Voltage-Gated Sodium ChannelNAV1.1 Voltage-Gated Sodium ChannelSCN1A protein, humanScn1a protein, mouseSodium Channel Blockersapneabrainstemsodium channelsudden death

Identifiers

PMID38547067
PMCPMC10998578
OpenAlexW4393278696

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.