4.8 Article

Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates

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Summary: In this study, heterozygous CELF2 variants were identified in five unrelated individuals, resulting in developmental and epileptic encephalopathy (DEE) in four individuals and intellectual disability with autistic features in one individual. The variants were mainly de novo, except for one inherited from a mosaic mother. These variants likely disrupt the nuclear localization of the CELF2 protein, leading to the associated DEE phenotype.

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