Evidence map›Paper›PMID 40034633›Full record

ArticleCureus2025

Homozygous Mutation in the QARS1 Gene Causing Developmental Epileptic Encephalopathy in Siblings in the Southeast Asian Region: An Interesting Case Report and Discussion.

Preeti Srivastava, Md W Uddin, Kumar Diwakar, Summet Biswal, Aishwarya Senapati

Abstract readCase Reports
In one paragraph

Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Genetics of epilepsy.Experimental biology and medicine (Maywood, N.J.) · 2026
    Review
  2. 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

5 authors.

Preeti SrivastavaDepartment of Paediatrics, Tata Main Hospital, Jamshedpur, IND.
Md W UddinDepartment of Paediatrics, Tata Main Hospital, Jamshedpur, IND.
Kumar DiwakarDepartment of Paediatrics, Tata Main Hospital, Jamshedpur, IND.
Summet BiswalDepartment of Paediatrics, Tata Main Hospital, Jamshedhpur, IND.
Aishwarya SenapatiDepartment of Paediatrics, Manipal Tata Medical College, Jamshedpur, IND.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Developmental epileptic encephalopathy (DEE) refers to conditions where cognitive functions are impacted both by seizures as well as interictal epileptiform activities and the neurobiological processes involved. They lead to early onset refractory epilepsy causing progressive decline in cerebral function, developmental delay, and significant EEG changes. Glutaminyl-tRNA synthetase (QARS) is encoded by the

Indexed as

developmental and epileptic encephalopathydrug-refractory seizuresglobal developmental delay (gdd)microcephalyqars gene mutation

Identifiers

PMID40034633
PMCPMC11874448

What OpenQuestion holds

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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.