STXBP1 encephalopathy encompasses a range of neurodevelopmental conditions including autism, intellectual disability (mental retardation), cognitive impairment, and movement disorder (Chai et al, 2016; Lanoue et al, 2019; Saitsu et al, 2010; Stamberger et al, 2016; Tavyev Asher and Scaglia, 2012), and is thought to stem from haploinsufficiency altering the levels of functional STXBP1 protein and gain of toxic function (Lanoue et al, 2019). The gene discussed is STXBP1; the disease is Encephalopathy.