The mammalian/mechanistic target of rapamycin (mTOR) pathway is a key signaling pathway that has been implicated in genetic epilepsy syndromes, neurodegenerative diseases, and conditions associated with autism spectrum disorder and cognitive impairment. The mTOR pathway has become an exciting treatment target for these various disorders, with mTOR inhibitors such as rapamycin being studied for their potential therapeutic applications. In particular, tuberous sclerosis complex (TSC) is a genetic disorder resulting from overactivation of the mTOR pathway, and pharmacologic therapy with mTOR inhibitors has emerged as a viable treatment option for the systemic manifestations of the disease. In this review, we discuss the approved indications for mTOR inhibitors in TSC, the potential future applications of mTOR inhibitors in TSC and other neurological conditions, and the safety considerations applicable to mTOR therapy in the pediatric population.
- Tuberous sclerosis