Evidence map›Paper›PMID 36674476›Full record

ArticleInternational journal of molecular sciences2023

Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1.

Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2023. 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
0.7field-weighted citation impact, top 35% 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, 5 citations in OpenAlex.

  1. Article
  2. A New GlyT2 Variant Associated with Hyperekplexia.International journal of molecular sciences · 2025
    Article
  3. A transporter's doom or destiny:Frontiers in molecular neuroscience · 2024
    Review
  4. 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

9 authors at 4 institutions in 1 country.

Dolores PiniellaCentro de Biología Molecular Severo Ochoa, Facultad de Ciencias, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, 28049 Madrid, Spain.ORCID 0000-0003-1158-0226
Ania CansecoCentro de Biología Molecular Severo Ochoa, Facultad de Ciencias, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, 28049 Madrid, Spain.ORCID 0000-0001-7622-5722
Silvia VidalSant Joan de Déu Research Foundation, 08950 Barcelona, Spain.
Clara XiolSant Joan de Déu Research Foundation, 08950 Barcelona, Spain.
Aránzazu Díaz de BustamanteGenetics Unit, Hospital Universitario de Móstoles, 28935 Madrid, Spain.
Itxaso Martí-CarreraPediatric Neurology, Hospital Universitario Donostia, Biodonostia, Universidad del País Vasco UPV-EHU, 20014 San Sebastián, Spain.ORCID 0000-0003-0578-9568
Judith ArmstrongIPER, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, 08950 Barcelona, Spain.ORCID 0000-0003-0588-9307
Ugo BastollaCentro de Biología Molecular Severo Ochoa, Facultad de Ciencias, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
Francisco ZafraCentro de Biología Molecular Severo Ochoa, Facultad de Ciencias, Consejo Superior de Investigaciones Científicas, Universidad Autónoma de Madrid, 28049 Madrid, Spain.
Consejo Superior de Investigaciones Científicas · ESHospital Sant Joan de Déu Barcelona · ESHospital Universitario de Móstoles · ESUniversity of the Basque Country · ES

Funding

Autonomous University of Madrid CA1/RSUE/2021-00753Ministry of Health, Carlos III/FEDER PI20/00389Spanish Ministry of Universities FPU18/02152Spanish Ministry Science and Innovation PID2019-109041GB-C22/10.13039/501100011033Spanish Ministry Science and Innovation RTI2018-098712-B-I00
6 · The paper itself

Abstract

In this article, we identified a novel epileptogenic variant (G307R) of the gene

Indexed as

Epilepsies, MyoclonicGABA Plasma Membrane Transport ProteinsLipid BilayersHumansGABA Plasma Membrane Transport ProteinsLipid BilayersSLC6A1 protein, human4-phenylbutyrateepilepsyGABA transporterintracellular trafficking

Identifiers

PMID36674476
PMCPMC9862756
OpenAlexW4313503736

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.