To further investigate the value of our annotations in epilepsy diagnostics, we screened a cohort of 122 people with DS or a clinically similar phenotype for the added regions of SCN1A, plus seven other genes with known associations to this disorder (SCN2A, SCN1B, GABRA1, GABRG2, HCN1, CHD2 and PCDH19). This evidence concerns the gene PCDH19 and epilepsy.