A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces.

Tenghui Wu, Fang He, Xiaoyuan Ni, Fei Yin, Jing Peng

Abstract readCase Reports

In one paragraph

Article in Human mutation, 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.

A Novel Gain-of-Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces.Human mutation · 2026
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.

Tenghui WuDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.ORCID https://orcid.org/0000-0002-8756-5594

Fang HeDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.ORCID https://orcid.org/0000-0002-7627-0424

Xiaoyuan NiDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.ORCID https://orcid.org/0009-0005-7049-5672

Fei YinDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.ORCID https://orcid.org/0000-0002-7192-6308

Jing PengDepartment of Pediatrics, Xiangya Hospital, Central South University, Changsha, Hunan Province, China, csu.edu.cn.ORCID https://orcid.org/0000-0002-7752-6962

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Two clinical phenotypes are associated with GLUL mutations, from different inheritance mode. Recessive forms are associated with congenital glutamine deficiency, manifesting with severe brain malformation, multiorgan failure, and early death. A dominant form has recently been described, which involves dysregulated glutamine synthetase stability and manifests as developmental and epileptic encephalopathy (DEE). All reported dominant mutations are within the start codon or the 5

Indexed as

EpilepsyGain of Function MutationGlutamate-Ammonia LigaseBrainFemaleGlutamineHumansMagnetic Resonance ImagingPhenotypeGLUL protein, humanGlutamate-Ammonia LigaseGlutaminedevelopmental and epileptic encephalopathyGLULglutamine synthetaseperivascular spaces

Identifiers

PMID42311234

DOI10.1155/humu/2799390

PMCPMC13270217

What Socratic holds

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LicenceCC BY

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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 Socratic graph.