Specifically, a homozygous truncating variant in DENND5A:NM_015213.4:c.3387+3 G > T;r.3305_3387del;p.(Lys1102Thrfs*27) was initially ignored in three affected siblings with the typical DENND5A-related developmental and epileptic encephalopathy phenotype because it was also homozygous in their unaffected sibling (Supplementary Fig. 3). The gene discussed is DENND5A; the disease is Epileptic encephalopathy.