Article

Individuals with reported and novel KDM5C variants present with seizures, a feature recapitulated in a Drosophila model

2025-09-19

Abstract excerpt

Variants in the chromatin regulator KDM5C cause a rare neurodevelopmental disorder (KDM5C-NDD) characterized by intellectual disability, seizures, and a broad range of systemic features. To better understand this disorder, more detailed and standardized information is required regarding the association between these genetic variants and cognitive and behavioral traits. Utilizing data obtained by the RARE-X KDM5C D...

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Literature Corpus work: eb99a37f-ad2d-5e60-96b3-f54d95235af6
DOI: 10.1101/2025.09.16.25335792

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