The strong connection between hyperactivation of this pathway and conditions such as TSC, FCD2, HME, SKS, POLR2A-related syndrome associated with epilepsy and mental retardation, PMSE, PTEN syndrome, DEPDC5-related syndrome, and PROS underscores the central role of mTOR in neurodevelopmental and epileptogenic processes. This evidence concerns the gene POLR2A and Down syndrome.