STXBP1 and encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy: For example, childhood STXBP1 (syntaxin-binding protein 1, also known as MUNC18-1) disorder is a haploinsufficiency associated with heterogeneous epilepsy phenotypes (Stamberger et al., 2016): early infantile epileptic encephalopathy (EIEE; also known as Ohtahara syndrome) (Saitsu et al., 2010; Tso et al., 2014), infantile spasms (also known as West syndrome) (Barcia et al., 2014; Otsuka et al., 2010), Lennox-Gastaut syndrome (Epi4K Consortium et al., 2013), and Dravet syndrome (Carvill et al., 2014).