NPRL2 and epilepsy: As previous studies have showed global deletion of NPRL2 results in embryonic lethality and defective fetal liver hematopoiesis (Dutchak et al., 2015), the mechanisms that underlie epilepsy-linked NPRL2 somatic mutations may elicit distinct changes in the GATOR1 structure that impair cell-type specific mTORC1 regulatory functions.