Article

Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures

2025-06-23

Abstract excerpt

De novo heterozygous variants in the CELF2 gene have recently been associated with a rare neurodevelopmental disorder. However, the mechanisms linking specific variants to distinct clinical phenotypes remain poorly understood. Here, we report a new cohort of 14 individuals with de novo CELF2 variants, providing evidence that variants causing CELF2 cytoplasmic mislocalization, but not its loss-of-function, are as...

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Literature Corpus work: f4ab1751-aa83-59a3-9ff8-75e570f4a09e
DOI: 10.1101/2025.06.20.25329512

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Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizuresDOI 10.1101/2025.06.20.25329512Read

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