FIGURE 1.

Schematic of PI3K/Akt/mTOR signaling cascade. Multiple protein pathways converge to modulate mTOR signaling in response to growth factors, nutrient cues such as amino acids, and cellular energy levels (ATP). The GATOR1 complex includes DEPDC5 and NPRL3. Much of mTOR signaling regulation occurs in the cytoplasm or in proximity to the lysosomal membrane. MCD subtypes have been linked to gene mutations within components of the cascade, that is, focal cortical dysplasia (FCD), megalencephaly (ME), and hemimegalencephaly (HME). Modified from Crino (1).