Article

Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathy

2025-09-04

Abstract excerpt

<h4>ABSTRACT</h4> Neurodevelopmental disorders (NDDs) affect 2-4% of the population, are predominantly genetic, and remain unsolved in ∼50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. We define a novel recessive RNU2-2 syndrome, delineate its unique genetic architecture and show that clinically it manifests as a severe devel...

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Literature Corpus work: 418106e0-6224-5a83-abe3-6e3b4ea6974f
DOI: 10.1101/2025.09.02.25334957

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