{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T12:50:26Z","timestamp":1789563026440,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T00:00:00Z","timestamp":1531872000000},"content-version":"vor","delay-in-days":47,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    We describe a 10\u2010month\u2010old boy with early\u2010onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3\u2010q34.11 involving\n                    <jats:italic>STXBP1<\/jats:italic>\n                    and\n                    <jats:italic>SPTAN1<\/jats:italic>\n                    genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low\u2010amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum. This patient is the second reported case with 9q33.3\u2010q34.11 deletion involving\n                    <jats:italic>STXBP1<\/jats:italic>\n                    and\n                    <jats:italic>SPTAN1<\/jats:italic>\n                    genes associated with epileptic encephalopathy and myoclonic seizures. Larger case series are needed to better delineate this association.\n                  <\/jats:p>","DOI":"10.1684\/epd.2018.0969","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T09:24:29Z","timestamp":1564737869000},"page":"214-218","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Early\u2010onset epileptic encephalopathy with myoclonic seizures related to 9q33.3\u2010q34.11 deletion involving\n                    <i>STXBP1<\/i>\n                    and\n                    <i>SPTAN1<\/i>\n                    genes"],"prefix":"10.1002","volume":"20","author":[{"given":"Akilandeswari","family":"Aravindhan","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School Newark NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinal","family":"Shah","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School Newark NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayoung","family":"Pak","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Neurology, Rutgers New Jersey Medical School Newark NJ USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aravindhan","family":"Veerapandiyan","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Rochester NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,18]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.10.006"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.06.002"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.65"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0178-8"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12106"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.013"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01733.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000002457"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx195"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2007.01.071"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1528-1157.44.s11.5.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00392-8"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2018.0969","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T12:11:05Z","timestamp":1710763865000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2018.0969"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,6]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,6]]}},"alternative-id":["10.1684\/epd.2018.0969"],"URL":"https:\/\/doi.org\/10.1684\/epd.2018.0969","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,6]]},"assertion":[{"value":"2017-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-07-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}