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Article

Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.

Disease models & mechanisms - 1 Jun 2024

Marshall Grant F, Fasol Melissa, Davies Faith C J, Le Seelleur Matthew, Fernandez Alvarez Alejandra, Bennett-Ness Cavan, Gonzalez-Sulser Alfredo, Abbott Catherine M

Abstract excerpt

De novo heterozygous missense mutations in EEF1A2, encoding neuromuscular translation-elongation factor eEF1A2, are associated with developmental and epileptic encephalopathies. We used CRISPR/Cas9 to recapitulate the most common mutation, E122K, in mice. Although E122K heterozygotes were not observed to have convulsive seizures, they exhibited frequent electrographic seizures and EEG abnormalities, transient...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 38179821
DOI: 10.1242/dmm.050501
PMCID: PMC10855229

Genes

EEF1A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Face-valid phenotypes in a mouse model of the most common mutation in EEF1A2-related neurodevelopmental disorder.PMID 38179821Read ↗

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