Sirolimus Improves Seizure Control in Pediatric Patients with Tuberous Sclerosis: a Prospective Cohort Study

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1/TSC2 genes, which leads to hyperactivation of the mammalian target of rapamycin (mTOR) pathway [1]. TSC manifestations show high heterogeneity and can involve multiple organs, including the kidney, brain, heart, liver, and skin [2]. Epilepsy, as the most common neurologic complication, affects approximately 90% of patients, and among them, two-thirds are drug-resistant [3], which is defined as the failure to achieve seizure control with at least two antiepileptic drugs (AEDs) [4].

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