Clinical Letter: A case report of targeted therapy with sirolimus for NPRL3 epilepsy

NPRL3 (nitrogen permease regulator-like 3), NPRL2, and DEPDC5 (disheveled, Egl-10, and pleckstrin (DEP) domain-containing 5) form the GATOR1 complex (GTPase-activating protein (GAP) activity toward RAG complex 1) [1]. GATOR1 is in the mammalian target of rapamycin (mTOR) pathway and negatively regulates it (Fig. 1) [2]. Mutations in DEPDC5, NPRL2, and NPRL3 are associated with focal epilepsy and cortical malformations [2,3]. Treatment with a mTOR inhibitor reduces seizures in patients with tuberous sclerosis complex, a known mTORopathy [4].

Source: Seizure: European Journal of Epilepsy - October 31, 2019 Category: Neurology Authors: Marissa Vawter-Lee, David N. Franz, Christine E. Fuller, Hansel M. Greiner Tags: Clinical letter Source Type: research