{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T10:38:24Z","timestamp":1784543904762,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T00:00:00Z","timestamp":1753747200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012856","name":"Alberta Children's Hospital Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012856","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2025,10]]},"abstract":"Abstract<\/jats:title>\n \n Patients with\n TUBA1A<\/jats:italic>\n pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types. We report on an infant with a\n TUBA1A<\/jats:italic>\n variant presenting with an evolving epileptic encephalopathy. Initially, this patient presented with infantile epileptic spasms syndrome, with the eventual appearance of atypical absence seizures before the age of 1\u2009year. We discuss the initial diagnostic uncertainty that was raised by the finding of early onset absence epilepsy and review the other\n TUBA1A<\/jats:italic>\n \u2010related seizure types reported in the literature.\n <\/jats:p>","DOI":"10.1002\/epd2.70072","type":"journal-article","created":{"date-parts":[[2025,7,29]],"date-time":"2025-07-29T16:47:08Z","timestamp":1753807628000},"page":"1026-1031","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["TUBA1A<\/i>\n \u2010related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence\u00a0seizures"],"prefix":"10.1002","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5118-3992","authenticated-orcid":false,"given":"Andy Cheuk\u2010Him","family":"Ng","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute University of Calgary Calgary Alberta Canada"},{"name":"Department of Clinical Neurosciences, Cumming School of Medicine University of Calgary Calgary Alberta Canada"},{"name":"Division of Neurology, Department of Pediatrics, Faculty of Medicine and Dentistry University of Alberta and Stollery Children's Hospital Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morris H.","family":"Scantlebury","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute University of Calgary Calgary Alberta Canada"},{"name":"Department of Clinical Neurosciences, Cumming School of Medicine University of Calgary Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1210272"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2021.106631"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17239"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells8070669"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-01001-z"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.62.3.371"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2011.0447"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1984.tb04149.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02198.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12007"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2015.07.034"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv250"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1020-x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu082"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epd2.70072","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T15:41:30Z","timestamp":1763480490000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epd2.70072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,29]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/epd2.70072"],"URL":"https:\/\/doi.org\/10.1002\/epd2.70072","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,29]]},"assertion":[{"value":"2025-05-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-04","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}