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. Here, TSC1 is linked to cerebral malformation.