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

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, w...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886097/
https://www.ncbi.nlm.nih.gov/pubmed/34717047
http://dx.doi.org/10.1002/epi4.12553

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