In addition, to determine the role of STXBP1 in Early Infantile Epileptic Encephalopathy, Saitsu et al. have identified four heterozygous missense mutations: V48D (Exon 5), C180Y (Exon 7), M443R (Exon 15), and G544D (Exon18) inducing the disease in the cases of one woman and three men [9]. This evidence concerns the gene STXBP1 and Epileptic encephalopathy.