In particular, recurrent de novo variants at the E237 residue of the KIF5C protein have been associated with a syndrome characterized by intellectual disability, autistic traits, epilepsy, frontal cortical dysplasia and dysmorphic facial features (Cavallin et al., 2016; Jamuar et al., 2014; Michels et al., 2017; Poirier et al., 2013; Willemsen et al., 2014). The gene discussed is KIF5C; the disease is epilepsy.