Evidence map›Paper›PMID 41573381›Full record

ArticleJIMD reports2026

Identification of Additional Cases of Severe Neonatal GABA-Transaminase Deficiency.

Deima Alammary, Tisiana Low, Ganesh Srinivasan, Marie-Claude Dery, Mahmoud Almutadares, Samantha Marin, Mubeen F Rafay, Katya Rozovsky, Patrick Frosk

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Deima AlammarySections of Neonatology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.ORCID https://orcid.org/0000-0003-4463-5764
Tisiana LowGenetics and Metabolism, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.ORCID https://orcid.org/0000-0001-9498-3703
Ganesh SrinivasanSections of Neonatology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.
Marie-Claude DeryClinical Biochemistry Diagnostic Services, Shared Health Winnipeg Manitoba Canada.
Mahmoud AlmutadaresGenetics and Metabolism, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.
Samantha MarinNeurology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.
Mubeen F RafayNeurology, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.
Katya RozovskyDiagnostic Imaging, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.
Patrick FroskGenetics and Metabolism, Department of Pediatrics and Child Health, Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GABA-transaminase (GABA-T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the

Indexed as

burst suppressionfounder mutationGABA transaminase deficiencyneonatal encephalopathyurine GABA quantification

Identifiers

PMID41573381
PMCPMC12820413

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.