The number of loci included in the epigenetic signature of DS was too small to perform ontology enrichment analyses, however from a careful screening of the list four main functions emerged: 1) haematopoiesis (RUNX1, DLL1, EBF4 and PRMD16); 2) morphogenesis and development (HOXA2, HOXA4, HOXA5, HOXA6, HHIP, NCAM1); 3) neuronal development (NAV1, EBF4, PRDM8, NCAM1, GABBR1); 4) regulation of chromatin structure (PRMD8, KDM2B, TET1). The gene discussed is NAV1; the disease is Dravet syndrome.