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Article

Behavioral and epileptic phenotypes in a CHD2-related developmental delay model.

Epilepsia - 1 Apr 2026

Mavashov Anat, Turk Shaked, Sarusi Yael, Brusel Marina, Ben Tov Perry Rotem, Quinn Shir, Almog Yael, Vilian Karni, Yam Mor, Ulitsky Igor, Rubinstein Moran

Abstract excerpt

OBJECTIVE: Heterozygous loss-of-function mutations in the CHD2 gene, encoding chromodomain helicase DNA-binding protein 2, are associated with severe childhood onset epilepsy, global developmental delay, and autistic features. Animal models that accurately recapitulate human phenotypes are crucial for understanding rare neurodevelopmental disorders and developing novel treatments. However, such a model for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41472544
DOI: 10.1002/epi.70073
PMCID: PMC13075614

Genes

CHD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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