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We identified de novo mutations in <jats:italic>STXBP1<\/jats:italic> (nonsense, p.R388X; splicing, c.169+1G&gt;A) in two patients with severe mental retardation and nonsyndromic epilepsy. Reverse transcriptase polymerase chain reaction and sequencing showed that the splicing mutation creates a stop codon downstream of exon\u20103. No de novo or deleterious mutations in <jats:italic>STXBP1<\/jats:italic> were found in 190 control subjects, or in 142 autistic patients. These results suggest that <jats:italic>STXBP1<\/jats:italic> disruption is associated with autosomal dominant mental retardation and nonsyndromic epilepsy. 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