Article

Early death and neuronal abnormalities in <i>depdc5</i> loss-of-function mosaic zebrafish models

2025-12-09

Abstract excerpt

DEPDC5 (DEP domain-containing protein 5) encodes a repressor of the mTORC1 signaling pathway. Variants in DEPDC5 are associated with a range of focal epilepsies, including mosaic variants associated with focal cortical dysplasia (FCD) and other focal brain malformations with brain-only somatic mosaic variants. To investigate the role of DEPDC5 in human epilepsy related to mosaic variants, we have generated mosai...

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Literature Corpus work: 9896e4d3-de49-5231-bfb4-3011dfb95f9f
DOI: 10.64898/2025.12.04.692362

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