b. Therapies that modify signalling pathways are used to treat autoimmune epilepsy and epilepsies related to the mTOR pathway
Rapamycin (sirolimus), a macrolide compound isolated in 1975 from Streptomyces hygroscopicus, and Everolimus, derived from rapamycin with more favourable pharmacokinetic characteristics, inhibit the mTOR pathway and so control cellular proliferation and tumour growth. Both sirolimus and everolimus have demonstrated efficacy for the treatment of multiple aspects of TSC including renal angiomyolipoma and SEGAs, (Franz et al 2013; 2016; Krueger et al 2013). The efficacy of everolimus in the treatment of seizures for TSC patients with refractory epilepsy has been demonstrated in some clinical trials (Kreuger et al 2018; French et al 2016).