In 2018, Ito et al. reported a case series of five unrelated individuals with moderate-to-profound intellectual disability (ID), autistic features, and epilepsy who had de novo truncating variants in WASF1. Three individuals shared a recurrent nonsense variant [c.1516C>T (p.R506*)], while the other two individuals had unique variants [c.1558C>T (p.Q520*) and c.1482delinsGCCAGG (p.I494Mfs*23)]. The gene discussed is WASF1; the disease is epilepsy.