By revisiting clinical phenotypes of the three NF1 DNM carriers (Supplementary Table 7), we found symptoms compatible with NF1 (e.g. café-au-lait spots) in two patients (carrying c.3445A > G [p.Met1149Val] or c.4835+1G > T variant; both are registered in HGMD with no clear description of epilepsy). The gene discussed is NF1; the disease is epilepsy.