Additional studies have also suggested that UBE3A may play a role in transcriptional regulation.127 Consequently, loss-of-function mutations within the maternal allele of UBE3A lead to intellectual disability, seizures, developmental delays and other comorbidities.128 Despite a decade of research performed with animal models, the pathophysiological mechanisms linking dysfunction of the UBE3A maternal allele to the AS neurodevelopmental phenotype remain poorly understood. The gene discussed is UBE3A; the disease is Intellectual disability.