Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.

ABSTRACT: Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early-infantile (<12 weeks) developmental and epileptic encephalopathy was described with hypoglycaemia and lactic acidosis. Here, we describe two unrelated patients with a novel RARS2 phenotype and reanalyse the published RARS2 epilepsy phenotypes and variants. Our novel cases had infantile-onset myoclonic developmental and epileptic encephalopathy, presenting with a progressive movement disorder from 9 months on a background of normal development. Development plateaued and regressed thereafter, with mild to profound impairment. Multiple drug-resistant generalized and focal seizures occurred with episodes of non-convulsive sta

SUBMITTER: de Valles-Ibanez G 

PROVIDER: S-EPMC8886097 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature