STXBP1 gene mutations have been linked with epilepsy syndromes such as infantile epileptic encephalopathy type 4 (Saitsu et al., 2008, Milh et al., 2011, Deprez et al., 2010, Otsuka et al., 2010, Vatta et al., 2012, Mignot et al., 2011, Campbell et al., 2012). The gene discussed is STXBP1; the disease is epilepsy syndrome.