Jamel Chelly and colleagues identify mutations in the E3 ubiquitin ligase gene NEDD4L that cause a syndrome of periventricular nodular heterotopia associated with neurodevelopmental disorders, cleft palate and toe syndactyly. The authors show that the mutations affect the mTORC1 and AKT pathways and cause defects in mouse brain development.
- Loïc Broix
- Hélène Jagline
- Jamel Chelly