{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:23:23Z","timestamp":1777803803147,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T00:00:00Z","timestamp":1364256000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>The authors describe 2 patients with early infantile epileptic encephalopathy caused by 2 novel mutations involving the STXBP1 gene. The authors suggest that in spite of the rarity of STXBP1 mutations, molecular analysis of STXBP1 gene should be performed in patients with early infantile epileptic encephalopathy, after exclusion of ARX mutations in male patients and CDKL5 mutations in female patients. The potential mechanisms explaining the variable clinical phenotypes caused by STXBP1 mutations are discussed and the designation of early-onset epileptic encephalopathies, including an updated genetic classification, is proposed to encompass the epileptic encephalopathies beginning in the first 6 months of life.<\/jats:p>","DOI":"10.1177\/0883073813479169","type":"journal-article","created":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T21:53:16Z","timestamp":1364334796000},"page":"622-624","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel\n                    <i>STXBP1<\/i>\n                    Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy"],"prefix":"10.1177","volume":"30","author":[{"given":"Mafalda","family":"Sampaio","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department, Hospital Pedi\u00e1trico Integrado, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Ruben","family":"Rocha","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Hospital Pedi\u00e1trico Integrado, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"}]},{"given":"Saskia","family":"Biskup","sequence":"additional","affiliation":[{"name":"Center for Genomics and Transcriptomics (CeGaT), Tubingen, Germany"}]},{"given":"Miguel","family":"Le\u00e3o","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Hospital Pedi\u00e1trico Integrado, Centro Hospitalar S\u00e3o Jo\u00e3o, Porto, Portugal"},{"name":"Genetics Department, Faculdade de Medicina da Universidade do Porto, Portugal"}]}],"member":"179","published-online":{"date-parts":[[2013,3,26]]},"reference":[{"key":"bibr1-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1038\/ng.150"},{"key":"bibr2-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2011.11.003"},{"key":"bibr3-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1177\/0883073811435246"},{"key":"bibr4-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02728.x"},{"key":"bibr5-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03181.x"},{"key":"bibr6-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2011.09.004"},{"key":"bibr7-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000649"},{"key":"bibr8-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002521"},{"key":"bibr9-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.65"},{"key":"bibr10-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2011.01.005"},{"key":"bibr11-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"bibr12-0883073813479169","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02522.x"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813479169","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0883073813479169","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073813479169","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:37:53Z","timestamp":1777495073000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073813479169"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,26]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,4]]}},"alternative-id":["10.1177\/0883073813479169"],"URL":"https:\/\/doi.org\/10.1177\/0883073813479169","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,26]]}}}