SCN1A and epilepsy: 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).