LAUSR

ABSTRACT Introduction: Tuberous sclerosis complex (TSC) is a rare genetic disorder resulting in benign tumors in various organs. It is caused by mutations in TSC1 or TSC2 genes causing hyperactivation of the mammalian target of rapamycin (mTOR) pathway. The majority of patients with TSC develop epilepsy, and approximately two-thirds become refractory to antiepileptic drugs (AEDs). Recently, the mTOR inhibitor everolimus was approved as adjunctive therapy for TSC-associated partial seizures. Areas covered: This article covers different characteristics of everolimus, including major clinical trials leading to its approval in TSC-associated partial seizures, safety concerns, drug pharmacokinetics/pharmacodynamics, and an overview of potential competitors and other agents used to treat TSC-associated seizures. Expert opinion: Unlike many other therapies for treating TSC-associated seizures, everolimus addresses the underlying pathophysiology of TSC, and since it has also been shown to improve other TSC manifestations such as subependymal giant cell astrocytomas and renal angiomyolipomas, everolimus provides a potential multisystemic therapy for TSC. An important avenue for future research is exploring the possible use of everolimus as a preventative treatment for seizures as there is the potential to prevent negative developmental outcomes associated with TSC.