Article
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
Epilepsia open - 1 Mar 2022
de Valles-Ibáñez Guillem, Hildebrand Michael S, Bahlo Melanie, King Chontelle, Coleman Matthew, Green Timothy E, Goldsmith John, Davis Suzanne, Gill Deepak, Mandelstam Simone, Scheffer Ingrid E, Sadleir Lynette G
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.