TSC2 and cerebral malformation: Furthermore, considering that most APEs with TSC1 or TSC2 variants in our study experienced brain malformations and multi-drug resistant epilepsy for approximately 30 years on average, the notion of mTOR inhibitors with disease-modifying effects is a reminder of the importance of early identification of mTOR gene variants in patients with epilepsy or other dermatological mimics of TS to treat or halt disease progression.