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

Author

Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Melanie Bahlo, Chontelle King, Matthew Coleman, Timothy E. Green, John Goldsmith, Suzanne Davis, Deepak Gill, Simone Mandelstam, Ingrid E. Scheffer, and Lynette G. Sadleir

Subjects
developmental and epileptic encephalopathy, epilepsy, infantile, movement disorder, myoclonic, RARS2, Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early‐infantile (

Published
2022
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