Dysregulation of mTOR signaling can cause a variety of diseases, including tuberous sclerosis (mutations in TSC1, TSC2), hemimegalencephaly (AKT3, PIK3CA, MTOR) and focal cortical dysplasia (DEPDC5, AKT3, MTOR) [65, 66]. The gene discussed is MTOR; the disease is tuberous sclerosis.