ArticleEpilepsia2026
Behavioral and epileptic phenotypes in a CHD2-related developmental delay model.
Article in Epilepsia, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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11 authors.
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Abstract
objectiveHeterozygous 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 CHD2-related disorders has been missing.
methodsWe performed behavioral, electrographic, epileptic, and transcriptomic analyses to characterize a mouse model harboring a frameshift truncating mutation in the Chd2 gene (Chd2
resultsThe genetic background altered the severity of disease-related phenotypes, such that crossing the mice from the C57BL/6J onto the 129X1/SvJ background uncovered neurodevelopmental phenotypes. On the 129X1/SvJ background, Chd2 SIGNIFICANCE: This mouse model recapitulates key phenotypes observed in CHD2 patients, providing a valuable platform to study the molecular basis and potential treatment strategies for this intractable disorder.
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