Missense variants outside protein domains in SETD1A, and of unclear effect, have been associated with early-onset epilepsy with or without ID (MIM #618832) (Yu et al., 2019), whereas LoF variants have been associated with a novel neurodevelopmental syndrome (MIM #611052) (Kummeling et al., 2021). The gene discussed is SETD1A; the disease is epilepsy, early-onset.