SPART and Troyer syndrome: In this framework, we present the identification of two rare missense variants in SPART in a young male proband with clinical features consistent with a diagnosis of Troyer syndrome including low normal stature, muscle weakness, impaired walking distance, developmental delay and MRI features compatible with the findings reported previously for this disorder [5,31], and epilepsy as likely an extension of the phenotype, since no other causative variants in epilepsy-related genes were identified via ES.