Infantile-onset Myoclonic Developmental and Epileptic Encephalopathy: a new RARS2 phenotype.
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DOI: 10.1002/epi4.12553
Abstract: Recessive variants in RARS2, a nuclear gene encoding a mitochondrial protein, were initially reported in pontocerebellar hypoplasia. Subsequently, a recessive RARS2 early-infantile ( read more here.
Keywords: onset myoclonic; epileptic encephalopathy; rars2 phenotype; infantile onset ... See more keywords