KPTN and epilepsy: To date, pathogenic variants in 14 distinct genes along the PI3K-mTOR pathway and GATOR1 complex, including PI3K, PTEN, AKT3, TSC1, TSC2, RHEB, MTOR, STRADA, DEPDC5, NPRL2, NPRL3, KPTN, SZT2, and TBC1D7, have been linked to MCD and epilepsy (Kim and Lee, 2019; Crino, 2020).