The term mTORopathy is used in the context of neurological diseases, especially epileptic encephalopathies and cortical malformations such as tuberous sclerosis due to mutations in TSC1 or TSC2; focal cortical dysplasia, often caused by somatic mutations in MTOR, PIK3CA, or AKT3; hemimegalencephaly; brain malformation associated with mutations that hyperactivate mTOR signaling; and DEPDC5-related epilepsy.422. The gene discussed is MTOR; the disease is tuberous sclerosis.