Evidence map›Paper›PMID 38565639›Full record

ArticleEuropean journal of human genetics : EJHG2024

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.

Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper and 14 more

Open access · hybridAbstract readCase Reports
In one paragraph

Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.4field-weighted citation impact, top 12% 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

9 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Article
  3. The human GABAbioRxiv : the preprint server for biology · 2026
    Article
  4. Review
  5. The human GABAmicroPublication biology · 2026
    Article
  6. Proteostasis regulation of GABABiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2025
    Review
  7. Article
  8. Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  9. Summer reading in EJHG.European journal of human genetics : EJHG · 2024
    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

24 authors at 12 institutions in 4 countries.

Samin A Sajan *Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.
Ralph Gradisch *Center for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.ORCID 0000-0002-3312-2472
Florian D VogelDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria.
Alison J Coffeylllumina Clinical Services Laboratory, Illumina Inc., San Diego, CA, USA.ORCID 0000-0002-1338-8513
Daria SalyakinaPersonalized Medicine and Health Outcomes Research, Nicklaus Children's Hospital, Miami, FL, USA.
Diana SolerPersonalized Medicine and Health Outcomes Research, Nicklaus Children's Hospital, Miami, FL, USA.
Parul JayakarDivision of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.
Anuj JayakarDepartment of Neurology, Division of Epilepsy, Nicklaus Children's Hospital, Miami, FL, USA.
Simona E BianconiKaiser Permanente, San Diego, CA, USA.
Annina H CooperKaiser Permanente, San Diego, CA, USA.
Shuxi LiuGeneDx, Gaithersburg, MD, USA.
Nancy WilliamMayo Clinic, Rochester, MN, USA.ORCID 0000-0002-7979-3634
Ira Benkel-HerrenbrückKinderneurologisches Zentrum, Sana Kliniken Düsseldorf, Düsseldorf, Germany.
Robert MaiwaldMedizinisches Versorgungszentrum für Gerinnungsdiagnostik und Medizinische Genetik Köln, Köln, Germany.
Corina HellerZentrum für Humangenetik, Tübingen, Germany.
Saskia BiskupZentrum für Humangenetik, Tübingen, Germany.
Steffen LeizDivision of Neuropediatrics, Klinikum Dritter Orden, Munich, Germany.
Dominik S WestphalInstitute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.ORCID 0000-0003-4870-9863
Matias WagnerInstitute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.ORCID 0000-0002-4454-8823
Amy ClarkeCenter for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.ORCID 0009-0006-1319-1311
Thomas StocknerCenter for Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
Margot ErnstDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria.
Akanchha Kesarilllumina Clinical Services Laboratory, Illumina Inc., San Diego, CA, USA.
Martin KrennDepartment of Neurology, Medical University of Vienna, Vienna, Austria. martin.krenn@meduniwien.ac.at.ORCID 0000-0003-3026-3082
Medical University of Vienna · ATMiami Children's Hospital · USIllumina (United States) · USKaiser Permanente San Diego Medical Center · USPraxis für Humangenetik Tübingen · DETUM Klinikum · DECenter for HIV and Hepatogastroenterology · DEComprehensive Cancer Center Vienna · ATMayo Clinic in Arizona · USMünchen Klinik · DEUniversity of Wisconsin–Madison · USUniversity of Zurich · CH

Funding

Austrian Science Fund FWF P 32017Austrian Science Fund FWF W 1232
6 · The paper itself

Abstract

Nine out of 19 genes encoding GABA

Indexed as

Developmental DisabilitiesEpilepsyMutation, MissensePhenotypeReceptors, GABA-AAdolescentChildChild, PreschoolFemaleHumansMaleGABRA4 protein, humanReceptors, GABA-A

Identifiers

PMID38565639
PMCPMC11291759
OpenAlexW4393441523

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.