{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T03:26:18Z","timestamp":1788319578547,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    <jats:italic>RNU2\u20102<\/jats:italic>\n                    is a non\u2010coding small nuclear RNA (snRNA) that forms part of the spliceosome. We identified recurrent pathogenic\n                    <jats:italic>RNU2\u20102<\/jats:italic>\n                    variants in 4 of 672 (0.6%) patients with developmental and epileptic encephalopathies (DEEs) of unknown cause. An additional patient was subsequently included. Patients with\n                    <jats:italic>RNU2\u20102<\/jats:italic>\n                    DEE had median seizure onset age of 24 months, focal and generalized seizures, status epilepticus (\n                    <jats:italic>n<\/jats:italic>\n                    =\u20095), severe to profound impairment, hyperventilation (\n                    <jats:italic>n<\/jats:italic>\n                    =\u20093), and obstructive sleep apnea (\n                    <jats:italic>n<\/jats:italic>\n                    =\u20093). Electroencephalography showed sleep\u2010activated multifocal epileptiform discharges (\n                    <jats:italic>n<\/jats:italic>\n                    =\u20094) and hippocampal sclerosis on magnetic resonance imaging (\n                    <jats:italic>n<\/jats:italic>\n                    =\u20093). Pathogenic variants in\n                    <jats:italic>RNU2\u20102<\/jats:italic>\n                    cause a distinctive severe DEE.SnRNAs are emerging as an important cause of genetic DEEs. ANN NEUROL 2026;99:51\u201358\n                  <\/jats:p>","DOI":"10.1002\/ana.78071","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T12:09:58Z","timestamp":1763554198000},"page":"51-58","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Pathogenic Variants in\n                    <i>RNU2\u20102<\/i>\n                    , a Non\u2010coding Spliceosomal\n                    <scp>RNA<\/scp>\n                    , Cause a Distinctive Developmental and Epileptic Encephalopathy"],"prefix":"10.1002","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0249-9725","authenticated-orcid":false,"given":"Annie T.G.","family":"Chiu","sequence":"first","affiliation":[{"name":"Epilepsy Research Centre, Department of Medicine University of Melbourne, Austin Health  Melbourne Victoria Australia"},{"name":"Bladin\u2010Berkovic Comprehensive Epilepsy Program, Department of 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