Article

Mosaic human cortical organoids model mTOR-related focal cortical dysplasia through DEPDC5 loss-of-function

2025-06-25

Abstract excerpt

Focal cortical dysplasia type II (FCDII), a leading cause of pediatric drug-resistant focal epilepsy, results from brain somatic variants in genes of the mTOR pathway, including germline and somatic second-hit loss-of-function variants in the mTOR repressor DEPDC5 . Here, we investigated the effects of mosaic DEPDC5 two-hit variants on cortical development and neuronal activity using patient-derived human cortic...

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Literature Corpus work: d07cf26b-3471-56c4-abba-6e2131d5dc2f
DOI: 10.1101/2025.06.25.661323

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