Pathogenic Variants in RNU2-2, a Non-coding Spliceosomal RNA, Cause a Distinctive Developmental and Epileptic Encephalopathy.
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DOI: 10.1002/ana.78071
Abstract: RNU2-2 is a non-coding small nuclear RNA (snRNA) that forms part of the spliceosome. We identified recurrent pathogenic RNU2-2 variants in 4 of 672 (0.6%) patients with developmental and epileptic encephalopathies (DEEs) of unknown cause.… read more here.
Keywords: non coding; developmental epileptic; rnu2 non; pathogenic variants ... See more keywords