Professionals

Pathogenic variants in in mitochondrial arginine-tRNA synthetase 2 (RARS2) are associated with a rare spectrum of autosomal recessive developmental epileptic encephalopathy phenotypes. The most commonly reported presentation – pontocerebellar hypoplasia 6 (OMIM# 611523) – is characterized by neonatal onset of intractable seizures, global developmental delay, and hypoplasia/atrophy of both supra- and subtentorial brain regions. More recently, a broader phenotypic spectrum has emerged with reports of individuals exhibiting milder disease manifestations, including infantile- or childhood-onset epilepsy, developmental delay, and variable movement abnormalities.