Evidence map›Paper›PMID 35269865›Full record

ArticleInternational journal of molecular sciences2022

Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.

Wenlin Chen, Yang Ge, Jie Lu, Joshua Melo, Yee Wah So, Romi Juneja, Lidong Liu, Yu Tian Wang

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.5field-weighted citation impact, top 20% 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

13 citing papers in PubMed, 16 citations in OpenAlex.

  1. Review
  2. Article
  3. 4-Phenylbutyrate Rescue inbioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Article
  6. Proteostasis regulation of GABABiomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2025
    Review
  7. Understanding paralogous epilepsy-associated GABAProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. Characterization of the zebrafish gabra1Differentiation; research in biological diversity
    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

8 authors at 1 institution in 1 country.

Wenlin ChenDjavad Mowafaghian Centre for Brain Health and Department of Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.ORCID 0000-0003-2752-3285
Yang GeDjavad Mowafaghian Centre for Brain Health and Department of Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.
Jie LuDjavad Mowafaghian Centre for Brain Health and Department of Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.
Joshua MeloNeurology Centre of Toronto, Toronto, ON M5N 1A8, Canada.
Yee Wah SoDjavad Mowafaghian Centre for Brain Health and Department of Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.
Romi JunejaNeurology Centre of Toronto, Toronto, ON M5N 1A8, Canada.
Lidong LiuDjavad Mowafaghian Centre for Brain Health and Department of Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.ORCID 0000-0002-7026-690X
Yu Tian WangDjavad Mowafaghian Centre for Brain Health and Department of Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.
University of British Columbia · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations of GABA

Indexed as

EpilepsyEpilepsy, GeneralizedNeurodevelopmental DisordersAnimalsChildgamma-Aminobutyric AcidHEK293 CellsHumansMutationRatsReceptors, GABA-AGABRA1 protein, humangamma-Aminobutyric AcidReceptors, GABA-Achannel gating propertiesde novo missense variantsepileptic encephalopathyGABRA1 T292 residueneurodevelopmental disorderstherapeutic options

Identifiers

PMID35269865
PMCPMC8911174
OpenAlexW4214628183

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.