Evidence map›Paper›PMID 37887313›Full record

ArticleCells2023

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing

Yonika A Larasati, Gonzalo P Solis, Alexey Koval, Silja T Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M Korff and 1 more

Open access · goldAbstract read
In one paragraph

Article in Cells, 2023. 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
3.4field-weighted citation impact, top 7% 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, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. 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

11 authors at 4 institutions in 4 countries.

Yonika A LarasatiTranslational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva, Switzerland.
Gonzalo P SolisTranslational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva, Switzerland.ORCID 0000-0002-2359-3780
Alexey KovalTranslational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva, Switzerland.
Silja T GriffithsDepartment of Pediatrics, Haukeland University Hospital, 5009 Bergen, Norway.
Ragnhild BerentsenDepartment of Medical Genetics, Haukeland University Hospital, 5009 Bergen, Norway.
Ingvild AukrustDepartment of Medical Genetics, Haukeland University Hospital, 5009 Bergen, Norway.
Gaetan LescaDepartment of Medical Genetics, University Hospital of Lyon, 69002 Lyon, France.
Nicolas ChatronDepartment of Medical Genetics, University Hospital of Lyon, 69002 Lyon, France.ORCID 0000-0003-0538-0981
Dorothée VillePediatric Neurology Department, University Hospital of Lyon, 69002 Lyon, France.
Christian M KorffPediatric Neurology Unit, University Hospitals of Geneva, CH-1211 Geneva, Switzerland.
Vladimir L KatanaevTranslational Research Center in Oncohaematology, Department of Cell Physiology and Metabolism, Faculty of Medicine, University of Geneva, CH-1211 Geneva, Switzerland.ORCID 0000-0002-7909-5617
University of Geneva · CHHaukeland University Hospital · NOHospices Civils de Lyon · FRUniversity Hospital of Geneva · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

De novo mutations in

Indexed as

Brain DiseasesChildGTP-Binding Protein alpha Subunits, Gi-GoGTP-Binding ProteinsGuanosine TriphosphateHumansIonsMutationGNAO1 protein, humanGTP-Binding Protein alpha Subunits, Gi-GoGTP-Binding ProteinsGuanosine TriphosphateIonscase reportdominant mutationdrug discoveryGNAO1G proteinsGTP bindingGαointracellular localizationmolecular etiologypediatric encephalopathypersonalized medicineprotein–protein interactions

Identifiers

PMID37887313
PMCPMC10605901
OpenAlexW4387702668

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.