Fig. 1.

The mTOR pathway and associated MCDs. Schematic of the mammalian target of rapamycin (mTOR) pathway, with protein components annotated with the malformations of cortical development (MCDs) for which pathogenic mutations have been identified in the respective genes. Bold indicates pathogenic somatic mutations have been identified. FCD, focal cortical dysplasia; HME, hemimegalencephaly; MEG, megalencephaly; PMSE, polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome; TSC, tuberous sclerosis complex