title: Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy.
abstract: Tuberous sclerosis complex (TSC) is a genetic disease in which overactivation of mechanistic target of rapamycin (mTOR) signaling leads to the growth of benign hamartomas in multiple organs, including the brain, and is associated with a high rate of epilepsy and neurological deficits. The mTOR inhibitor everolimus has been used in the treatment of subependymal giant cell astrocytomas and renal angiomyolipomas in patients with TSC. This article describes the case of a 13-year-old girl with TSC-associated epilepsy with refractory generalized seizures who initiated treatment with everolimus and experienced subsequent improvement in several TSC manifestations, including a reduction in seizure frequency from clusters of two or three daily to one every 2 to 4 weeks after 1.5 years of treatment.
authors.affiliation: Le Bonheur Children's Hospital and the University of Tennessee Health Science Center, Memphis, TN, USA.
authors.forename: James W
authors.initials: JW
authors.lastname: Wheless
keywords: AEDs, antiepileptic drugs; Epilepsy; Everolimus; Mechanistic target of rapamycin inhibitor; Pediatric; SEGA, subependymal giant cell astrocytoma; SEN, subependymal nodule; Seizures; TSC, tuberous sclerosis complex; Tuberous sclerosis complex; mTOR, mechanistic target of rapamycin