Two recent articles reported homozygous missense mutations in SARS1 also in close proximity to the active site (c.514G>A, p.Asp172Asn and c.638G>T, p.Arg213Leu), in two families affected by a neurodevelopmental syndrome including microcephaly, ataxia, seizures, moderate intellectual disability and other anomalies such as cardiomyopathy, deafness and decompensation during fever.9 10 Alterations in the central nervous system, such as MRI abnormalities including leucoencephalopathy, ataxia and seizures, have been reported in both cytoplasmic and mitochondrial ARS-related diseases.3 4 19 20. The gene discussed is SARS1; the disease is Seizure.