All 18 variants identified in this study were de novo heterozygous variants, which confirms that de novo mutation is the main genetic pattern of STXBP1-encephalopathy.[24] We identified 7 novel variants, including 3 frameshift mutations, 2 splicing mutations, 1 missense mutation, and 1 nonsense mutation. Here, STXBP1 is linked to Encephalopathy.