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).