Everolimus precision therapy in NPRL2- and NPRL3-related epilepsy
Disinhibition of the mechanistic target of rapamycin (mTOR) pathway has been observed in patients with loss-of-function variants in the disheveled, Egl-10, and pleckstrin domain-containing protein 5 (DEPDC5), and nitrogen permease regulator-like proteins 2 and 3 (NPRL2, and NPRL3) genes, which encode the components of GTPase activating protein Activity Toward Rags Complex 1 (GATOR1) complex. Evero
