EPG5 and Spastic paraplegia: In humans, recessive mutations in TECPR2 and EPG5, genes implicated in AP maturation (Stadel et al., 2015; Tian et al., 2010), are responsible, respectively, for spastic paraplegia 49 with brain malformations, including hypogenesis of the corpus callosum [OMIM 615031] and Vici syndrome with brain malformations, including agenesis of the corpus callosum [OMIM 242840] (Cullup et al., 2013; Oz-Levi et al., 2012).