STXBP1 and Menkes disease: Finally, we found a novel, heterozygous missense variant affecting the STXBP1 gene (c.1324A>G, p.N442D) in a 12-year-old boy with a severe neurodevelopmental disorder characterized by infantile-onset, drug-resistant epilepsy (with generalized myoclonic and focal motor seizures), an intellectual disability, and a peculiar complex MD phenotype with hypokinetic-rigid and dystonic features, with marked fluctuations in severity from day to day.