SCN1A and infantile spasms: By repeating the gene-based burden test (in Fig. 3 and Supplementary Fig. 8), we confirmed exome-wide significant enrichment of dURVs in five known genes (CDKL5, STXBP1, SCN1A, SCN2A, and KCNQ2) in EE/DEE cases as well as of damaging NF1 DNMs in infantile spasm, while there was no gene newly reached to the significance threshold by application of the additional filtering (Supplementary Data 10).