DEPDC5 mutations cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
A new study published in the Human Molecular Genetics identified biallelic missense variants in DEPDC5 (which encodes an inhibitory component of the mammalian target of rapamycin: mTOR), within nine children. They express extensive bilateral polymicrogyria, congenital macrocephaly and early-onset refractory epilepsy, in keeping with other mTOR-opathies. Eye and cardiac involvement and severe neutropenia were also observed in one or more patients. Mortality is common. The clinical, histopathological and genetic evidence supports a causal role for the variants.
- Hum Mol Genet . 2023 Jan 27;32(4):580-594