Recently, Gershlick et al. revealed compound heterozygous mutations (c.1468C>T/p.Asp745Thrfs*93 and c.2232delC/p.Arg490Cys) in the gene encoding the common GARP/EARP subunit VPS51 in a 6-year-old patient with severe global developmental delay, microcephaly, hypotonia, epilepsy, cortical visual impairment, pontocerebellar abnormalities, failure to thrive, liver dysfunction, lower extremity edema, and dysmorphic features were identified by exome sequencing. The gene discussed is VPS51; the disease is epilepsy.