{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,23]],"date-time":"2024-02-23T06:44:11Z","timestamp":1708670651434},"reference-count":20,"publisher":"Spandidos Publications","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomed Rep"],"DOI":"10.3892\/br.2022.1531","type":"journal-article","created":{"date-parts":[[2022,4,19]],"date-time":"2022-04-19T10:50:23Z","timestamp":1650365423000},"source":"Crossref","is-referenced-by-count":1,"title":["Two siblings suffering from Angelman Syndrome with a novel c.1146T&gt;G mutation in UBE3A: A case report"],"prefix":"10.3892","volume":"16","author":[{"given":"Can","family":"Liu","sequence":"first","affiliation":[{"name":"Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui-Hua","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guang-Fei","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qin-Liang","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shan-Ying","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing-Xia","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiu-Bo","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Affiliated Hospital of Jining Medical University, Jining, Shandong 272000, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2249","published-online":{"date-parts":[[2022,4,19]]},"reference":[{"key":"key20220520124901_b1-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"3021","DOI":"10.1093\/hmg\/ddaa191","article-title":"Abundance and localization of human UBE3A protein isoforms","volume":"29","author":"Sirois","year":"2020","journal-title":"Hum Mol Genet"},{"key":"key20220520124901_b2-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"1162","DOI":"10.1002\/jnr.24576","article-title":"Towards an understanding of angelman syndrome in mice studies","volume":"98","author":"Yang","year":"2020","journal-title":"J Neurosci Res"},{"issue":"142","key":"key20220520124901_b3-BR-16-6-01531","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-015-0622-8","article-title":"Angelman syndrome presenting with a rare seizure type in a patient with 15q11.2 deletion: A case report","volume":"9","author":"Ranasinghe","year":"2015","journal-title":"J Med Case Rep"},{"key":"key20220520124901_b4-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"2145","DOI":"10.1002\/ajmg.a.61740","article-title":"A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome","volume":"182","author":"Curtis","year":"2020","journal-title":"Am J Med Genet A"},{"key":"key20220520124901_b5-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1891\/0730-0832.36.3.142","article-title":"Angelman syndrome: Identification and management","volume":"36","author":"Bonello","year":"2017","journal-title":"Neonatal Netw"},{"key":"key20220520124901_b6-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1172\/JCI120816","article-title":"Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice","volume":"129","author":"Gu","year":"2019","journal-title":"J Clin Invest"},{"key":"key20220520124901_b7-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/0092-8674(93)90384-3","article-title":"The HPV-16 E6 and E6-AP complex functions as a ubiquitin-protein ligase in the ubiquitination of p53","volume":"75","author":"Scheffner","year":"1993","journal-title":"Cell"},{"key":"key20220520124901_b8-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1006\/geno.1997.4617","article-title":"The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing","volume":"41","author":"Yamamoto","year":"1997","journal-title":"Genomics"},{"key":"key20220520124901_b9-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"666","DOI":"10.1038\/nn.3996","article-title":"A coding-independent function of an alternative Ube3a transcript during neuronal development","volume":"18","author":"Valluy","year":"2015","journal-title":"Nat Neurosci"},{"issue":"476","key":"key20220520124901_b10-BR-16-6-01531","doi-asserted-by":"publisher","DOI":"10.3389\/fnmol.2018.00476","article-title":"UBE3A: An E3 ubiquitin ligase with genome-wide impact in neurodevelopmental disease","volume":"11","author":"Lopez","year":"2019","journal-title":"Front Mol Neurosci"},{"key":"key20220520124901_b11-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.3892\/ijmm.2017.2917","article-title":"Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data","volume":"39","author":"D'Angelo","year":"2017","journal-title":"Int J Mol Med"},{"key":"key20220520124901_b12-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1002\/ajmg.c.30273","article-title":"Prader-Willi syndrome and Angelman syndrome","volume":"154C","author":"Buiting","year":"2010","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"key20220520124901_b13-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1016\/j.nbd.2016.08.002","article-title":"Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model","volume":"96","author":"Ciarlone","year":"2016","journal-title":"Neurobiol Dis"},{"key":"key20220520124901_b14-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"228","DOI":"10.4103\/0028-3886.177615","article-title":"Scrutinizing brain magnetic resonance imaging patterns in Angelman syndrome","volume":"64","author":"Leyser","year":"2016","journal-title":"Neurol India"},{"key":"key20220520124901_b15-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/j.ejpn.2008.04.005","article-title":"Abnormal myelination in Angelman syndrome","volume":"l13","author":"Harting","year":"2009","journal-title":"Eur J Paediatr Neurol"},{"issue":"292","key":"key20220520124901_b16-BR-16-6-01531","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2009.07.007","article-title":"Abnormal myelination in Angelman syndrome","volume":"14","author":"Castro-Gago","year":"2010","journal-title":"Eur J Paediatr Neuro"},{"key":"key20220520124901_b17-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1016\/j.pediatrneurol.2012.09.015","article-title":"Neurologic manifestations of Angelman syndrome","volume":"48","author":"Thibert","year":"2013","journal-title":"Pediatr Neurol"},{"key":"key20220520124901_b18-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1007\/BF00441976","article-title":"The EEG in early diagnosis of the Angelman (happy puppet) syndrome","volume":"147","author":"Boyd","year":"1988","journal-title":"Eur J Pediatr"},{"key":"key20220520124901_b19-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1002\/ajmg.a.36416","article-title":"If not Angelman, what is it? A review of Angelman-like syndromes","volume":"164A","author":"Tan","year":"2014","journal-title":"Am J Med Genet A"},{"key":"key20220520124901_b20-BR-16-6-01531","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1001\/archneur.63.1.122","article-title":"Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13","volume":"63","author":"Valente","year":"2006","journal-title":"Arch Neurol"}],"container-title":["Biomedical Reports"],"original-title":[],"deposited":{"date-parts":[[2022,5,20]],"date-time":"2022-05-20T09:49:10Z","timestamp":1653040150000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.spandidos-publications.com\/10.3892\/br.2022.1531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,19]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2022,4,19]]}},"URL":"https:\/\/doi.org\/10.3892\/br.2022.1531","relation":{},"ISSN":["2049-9434","2049-9442"],"issn-type":[{"value":"2049-9434","type":"print"},{"value":"2049-9442","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,19]]},"article-number":"48"}}