{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T17:58:17Z","timestamp":1784743097581,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,4,24]],"date-time":"2023-04-24T00:00:00Z","timestamp":1682294400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,6]]},"abstract":"Abstract<\/jats:title>Objective<\/jats:title>ST3GAL3<\/jats:italic>\u2010related developmental and epileptic encephalopathy (DEE\u201015) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy. Only a few cases have been reported, and the epilepsy phenotype is not fully elucidated.<\/jats:p><\/jats:sec>Methods<\/jats:title>A retrospective chart review of two siblings with ST3GAL3<\/jats:italic>\u2010related DEE was completed. In addition, we reviewed all published cases of ST3GAL3\u2010<\/jats:italic>related congenital disorder of glycosylation.<\/jats:p><\/jats:sec>Results<\/jats:title>Two brothers presented with global developmental delay, motor and language impairment, hypotonia, and childhood\u2010onset seizures. Seizures started between 2.5 and 5\u2009years and had tonic components. Both siblings had prolonged periods of seizure freedom on carbamazepine. Tremor was present in the younger sibling. Whole exome sequencing revealed two novel pathogenic variants in ST3GAL3<\/jats:italic>, (a) c.302del, p.Phe102Serfs*34 and (b) c.781C>T, p.Arg261*, which were inherited in trans<\/jats:italic>. Magnetic resonance imaging showed T2 hyperintensities and restricted diffusion in the brainstem and middle cerebellar peduncle in the older sibling, also described in two reported cases. A review of the literature revealed 24 cases of ST3GAL3<\/jats:italic>\u2010related CDG. Twelve cases had information about seizures, and epilepsy was diagnosed in 8 (67%). The median age of seizure onset was 5.5\u2009months. Epileptic spasms were most common (67%). Four children were diagnosed with Infantile Epileptic Spasms syndrome and Lennox Gastaut syndrome (57%). Most children (n\u2009=\u20096, 75%) had seizures despite anti\u2010seizure medication treatment.<\/jats:p><\/jats:sec>Significance<\/jats:title>Seizures related to ST3GAL3<\/jats:italic>\u2010related DEE often occur in infancy and may present as epileptic spasms. However, seizure onset may also occur outside of infancy with mixed seizure types and show good response to treatment with prolonged seizure freedom. Tremor may also be uniquely observed in this condition.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.12747","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T11:19:51Z","timestamp":1681730391000},"page":"623-632","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The epilepsy phenotype of ST3GAL3<\/i>\u2010related developmental and epileptic encephalopathy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6851-0646","authenticated-orcid":false,"given":"Robyn","family":"Whitney","sequence":"first","affiliation":[{"name":"Division of Neurology Department of Paediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6009-0859","authenticated-orcid":false,"given":"Puneet","family":"Jain","sequence":"additional","affiliation":[{"name":"Epilepsy Program Division of Neurology Department of Paediatrics Hospital for Sick Children University of Toronto Toronto Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0368-8640","authenticated-orcid":false,"given":"Rajesh","family":"RamachandranNair","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Paediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin C.","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Paediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Kiani","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Paediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Tarnopolsky","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular and Neurometabolic Disorders Department of Paediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandon","family":"Meaney","sequence":"additional","affiliation":[{"name":"Division of Neurology Department of Paediatrics McMaster University Hamilton Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.12.001"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012744"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000448530"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00250-1"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104250"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/cwz079"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3253"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12050"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.08.008"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-022-02095-9"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0220-5"},{"issue":"88","key":"e_1_2_11_13_1","first-page":"1","article-title":"Congenital disorders of glycosylation from a neurological perspective","volume":"11","author":"Paprocka J","year":"2021","journal-title":"Brain Sci"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.688488"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.21037\/atm.2018.10.45"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12747","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T04:57:27Z","timestamp":1692507447000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,24]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/epi4.12747"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12747","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,24]]},"assertion":[{"value":"2023-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}