{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T22:16:07Z","timestamp":1785795367370,"version":"3.56.0"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T00:00:00Z","timestamp":1757289600000},"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":["Epileptic Disorders"],"published-print":{"date-parts":[[2025,12]]},"abstract":"Abstract<\/jats:title>\n \n Protein ufymilation is a post\u2010translational modification implicated in the regulation of several cellular processes. Biallelic variants in\n UBA5<\/jats:italic>\n causing a functional alteration of its protein product have been associated with early\u2010onset epileptic encephalopathy 44 (EIEE44), a rare disease for which 28 patients have been described in the literature at present. We here report on the clinical and detailed EEG phenotype of a novel patient affected by EIEE44. At 5 months of age, she presented with psychomotor delay, failure to thrive, and postural abnormalities. At 6 months of age, the EEG showed disorganization during both wakefulness and sleep, with numerous anomalies and the recording of epileptic myoclonus during falling asleep, in the absence of significant MRI correlates. Upon follow\u2010up after 1 month, the findings were suggestive of epileptic spasms. Valproate was then introduced, and vigabatrin was later added due to the onset of cluster episodes. Excessive drowsiness required a slow titration of the pharmacological therapy. At 2\u2009years of age, height and weight were still below the first centile. No more drowsiness was noted, but psychomotor delay and limb hypertonia persisted. The EEG remains disorganized during both wakefulness and sleep, with the presence of numerous interictal anomalies. We suggest\n UBA5<\/jats:italic>\n to be added to the genes that are routinely tested or analyzed when early\u2010onset epileptic encephalopathy is suspected. In the event of a genetic diagnosis of EIEE44, patients' management could benefit from state\u2010of\u2010the\u2010art clinical, prognostic, and therapeutic knowledge, which, in turn, would be further refined thanks to additional phenotypic reports.\n <\/jats:p>","DOI":"10.1002\/epd2.70094","type":"journal-article","created":{"date-parts":[[2025,9,8]],"date-time":"2025-09-08T13:38:22Z","timestamp":1757338702000},"page":"1275-1281","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["UBA5<\/i>\n \u2010epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes"],"prefix":"10.1002","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-6393-9319","authenticated-orcid":false,"given":"C.","family":"Cinnirella","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia Brescia Italy"},{"name":"Division of Child Neurology and Psychiatry Department of Pediatrics Institute for Maternal and Child Health Burlo Garofolo (IRCCS) Trieste Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Cinnirella","sequence":"additional","affiliation":[{"name":"Department of Systems Immunology Weizmann Institute of Science Rehovot Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Campanella","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Maccarelli","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Sciences University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Accorsi","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry ASST\u2010Spedali Civili of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6736-4330","authenticated-orcid":false,"given":"L.","family":"Giordano","sequence":"additional","affiliation":[{"name":"Unit of Child Neurology and Psychiatry ASST\u2010Spedali Civili of Brescia Brescia Italy"},{"name":"Regional Epilepsy Center ASST\u2010Spedali Civili of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,9,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.715474"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0466-8"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a005827"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.030"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2018.0981"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.06.009"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.06.020"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13203"},{"key":"e_1_2_9_10_1","doi-asserted-by":"crossref","unstructured":"ChenH WangYD.Patient derived model of UBA5\u2010associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies.bioRxiv.2024.https:\/\/doi.org\/10.1101\/2024.01.25.577254","DOI":"10.1101\/2024.01.25.577254"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0149039"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105288"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106496"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0041-1724130"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23534"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.70094","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/epd2.70094","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.70094","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T23:01:35Z","timestamp":1773010895000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.70094"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,8]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1002\/epd2.70094"],"URL":"https:\/\/doi.org\/10.1002\/epd2.70094","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,8]]},"assertion":[{"value":"2025-05-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication 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