Evidence map›Paper›PMID 38813985›Full record

ArticleEpilepsia open2024

Functional analysis of epilepsy-associated GABA

Ami Gadhia, Eleanor Barker, Alan Morgan, Jeff W Barclay

Abstract read
In one paragraph

Article in Epilepsia open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Review
  2. Article
  3. 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

4 authors.

Ami GadhiaDepartment of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool, UK.
Eleanor BarkerDepartment of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool, UK.
Alan MorganDepartment of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool, UK.
Jeff W BarclayDepartment of Biochemistry, Cell and Systems Biology, ISMIB, University of Liverpool, Liverpool, UK.ORCID https://orcid.org/0000-0003-4320-2094

Funding

Enhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Ann E. Rougvie · 2012 to 2026
$7.5M
Medical Research CouncilNIH HHS P40 OD010440Wellcome TrustWellcome Trust WT reference 102172/B/13/Z
6 · The paper itself

Abstract

objectiveGABA

methodsCRISPR-Cas9 gene editing was used to create a complete deletion of unc-49, a C. elegans GABA

resultsNematodes with a full genetic deletion of the entire unc-49 locus were compared with existing unc-49 mutations in three separate phenotypic assays-coordinated locomotion, shrinker frequency and seizure-like convulsions. The full unc-49 deletion exhibited reduced locomotion and increased shrinker frequency and PTZ-induced convulsions, but were not found to be phenotypically stronger than existing unc-49 mutations. Rescue with the unc-49B subunit or creation of humanized worms for the GABA SIGNIFICANCE: These findings establish C. elegans as a genetic model to investigate GABA PLAIN LANGUAGE SUMMARY: Epilepsy is a complex human disease that can be caused by mutations in specific genes. Many possible mutations have been identified, but it is unknown for most of them whether they cause the disease. We tested the role of mutations in one specific gene using a small microscopic worm as an animal model. Our results establish this worm as a model for epilepsy and confirm that the two unknown mutations are likely to cause the disease.

Indexed as

Caenorhabditis elegansCaenorhabditis elegans ProteinsDisease Models, AnimalEpilepsyMutationReceptors, GABA-AAnimalsCRISPR-Cas SystemsGene EditingLocomotionPhenotypeCaenorhabditis elegans ProteinsReceptors, GABA-AUnc-49 protein, C elegansconvulsionlocomotionseizureshrinkerunc‐49

Identifiers

PMID38813985
PMCPMC11296113

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Registered trials

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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.