Evidence map›Paper›PMID 41533182›Full record

ArticleNeurogenetics2026

Two siblings with a homozygous EEF1B2 loss-of-function variant: expanding the phenotypic spectrum of EEF1B2-related neurodevelopmental disorder.

Serap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, Pelin Özlem Şimşek-Kiper

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In one paragraph

Article in Neurogenetics, 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

4 authors.

Serap Ketenci-İşlekDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. serapislek08@gmail.com.ORCID http://orcid.org/0009-0000-5360-0219
Gizem Ürel-DemirDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.ORCID http://orcid.org/0000-0002-9928-3236
Gülen Eda UtineDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.ORCID http://orcid.org/0000-0001-6577-5542
Pelin Özlem Şimşek-KiperDivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.ORCID http://orcid.org/0000-0001-7244-7766

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The eukaryotic elongation factor 1 (eEF1) complex is essential for translational elongation and comprises eEF1A and eEF1B subunits. eEF1Bα, encoded by EEF1B2, functions as the complex’s guanine nucleotide exchange factor. Recently, biallelic loss-of-function variants in EEF1B2 have been implicated in a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, behavioral abnormalities, and occasional seizures. We describe two siblings from consanguineous parents who present with profound developmental delay, severe speech impairment, and additional neurodevelopmental features. Whole-exome sequencing identified a homozygous nonsense variant in EEF1B2, classified as likely pathogenic. These cases expand the phenotypic spectrum of EEF1B2-related disease.

Indexed as

Loss of Function MutationNeurodevelopmental DisordersPeptide Elongation Factor 1ChildChild, PreschoolDevelopmental DisabilitiesExome SequencingFemaleHomozygoteHumansIntellectual DisabilityMalePedigreePhenotypeSiblingsEEF1A2 protein, humanPeptide Elongation Factor 1EEF1B2Global developmental delayIntellectual disability

Identifiers

PMID41533182

What Socratic holds

Textmetadata
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 Socratic graph.