Nonetheless, the presence of rare LoF variants in gnomAD is likely to reflect the reduced penetrance and milder presentations observed in GATOR1 families.4 As expected, the percentage of individuals with likely pathogenic missense variants in DEPDC5 and NPRL2 genes was significantly higher in the epilepsy cohort compared with the gnomAD cohort (47% vs. 1.7% for DEPDC5 [p value <2.2e−16], and 40% vs. 4.7% for NPRL2 [p value = 0.02], two-tailed Fisher’s exact test). This evidence concerns the gene NPRL2 and epilepsy.