First described as causative of a severe early infantile epileptic encephalopathy (EIEE4, OMIM 612164) (Saitsu et al., 2008), the STXBP1 gene is now known to cause a severe neurodevelopmental disorder with almost constant intellectual disability, a high prevalence of epilepsy, and frequent occurrence of various MDs (Stamberger et al., 2016). This evidence concerns the gene STXBP1 and neurodevelopmental disorder.