Evidence map›Paper›PMID 35152403›Full record

ArticleEpilepsia2022

A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.

Florian D Vogel, Martin Krenn, Dominik S Westphal, Elisabeth Graf, Matias Wagner, Steffen Leiz, Filip Koniuszewski, Maximilian Augé-Stock, Georg Kramer, Petra Scholze and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Epilepsia, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 28% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.

  1. Cys-loop receptors on cannabinoids: All high?Frontiers in physiology · 2022
    Pooled it
  2. Review
  3. The human GABAbioRxiv : the preprint server for biology · 2026
    Article
  4. The human GABAmicroPublication biology · 2026
    Article
  5. Article
  6. Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  7. Article
  8. Article
  9. Article
  10. Inhibitory Synaptic Influences on Developmental Motor Disorders.International journal of molecular sciences · 2023
    Review
  11. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 2 countries.

Florian D VogelDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.ORCID 0000-0002-5572-217X
Martin KrennDepartment of Neurology, Medical University of Vienna, Vienna, Austria.ORCID 0000-0003-3026-3082
Dominik S WestphalInstitute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.ORCID 0000-0003-4870-9863
Elisabeth GrafInstitute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
Matias WagnerInstitute of Human Genetics, School of Medicine, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.ORCID 0000-0002-4454-8823
Steffen LeizDivison of Neuropediatrics, Klinikum Dritter Orden, Munich, Germany.
Filip KoniuszewskiDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.ORCID 0000-0001-5946-3147
Maximilian Augé-StockDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.
Georg KramerDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.
Petra ScholzeDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.ORCID 0000-0003-4984-6034
Margot ErnstDepartment of Pathobiology of the Nervous System, Center for Brain Research, Medical University Vienna, Vienna, Austria.ORCID 0000-0002-9809-2649
Medical University of Vienna · ATTUM Klinikum · DEMünchen Klinik · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Variants in γ-aminobutyric acid A (GABA

Indexed as

EpilepsyMutation, MissenseNeurodevelopmental DisordersReceptors, GABA-AHumansPhenotypeSeizuresGABRA4 protein, humanReceptors, GABA-ADrug-resistant epilepsyearly-onset epilepsyGABAA receptorsneurosteroidtonic inhibitiontrio exome sequencing

Identifiers

PMID35152403
PMCPMC9304230
OpenAlexW4213190966

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.