17 Saitsu Saitsu H H Kato Kato M M Mizuguchi Mizuguchi T T Hamada Hamada K K Osaka Osaka H H et al et al De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy Nat Genet Nat Genet 2008 2008 40 40 782 782 788 788 18469812 18469812. The gene discussed is STXBP1; the disease is early-infantile DEE.