{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T21:07:50Z","timestamp":1790197670215,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2018,9,12]],"date-time":"2018-09-12T00:00:00Z","timestamp":1536710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"crossref","award":["2016YFC1306202"],"award-info":[{"award-number":["2016YFC1306202"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Ministry of Science and Technology of China","award":["2016YFC0904400"],"award-info":[{"award-number":["2016YFC0904400"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Brain and Behavior"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>To detect syntaxin\u2010binding protein 1 (<jats:italic>STXBP1<\/jats:italic>) mutations in Chinese patients with early onset epileptic encephalopathy (EOEE) of unknown etiology. Targeted next\u2010generation sequencing was used to identify <jats:italic>STXBP1<\/jats:italic> mutations in 143 Chinese patients with EOEE of unknown etiology. A filtering process was applied to prioritize rare variants of potential functional significance. Then Sanger sequencing was employed to validate the parental origin of the variants. Detailed clinical and genetic data were collected for 9 <jats:italic>STXBP1<\/jats:italic>\u2010positive patients. Eight de novo heterozygous <jats:italic>STXBP1<\/jats:italic> mutations were identified in 9 patients; 5 were novel mutations (c.1155delC, c.1030\u20101G&gt;A, c.217G&gt;C, c.268G&gt;C, c.1480_1481 insT) and 3 were previously reported (c.1216C&gt; T, c.1217G&gt;A [2 cases], c.875G&gt;A). Two patients had Ohtahara syndrome and 1 had West syndrome at onset, whereas the other 6 presented with EOEE that did not fit a specific recognized epilepsy syndrome. Six of these patients later evolved to West syndrome. All but 2 cases were prescribed more than 2 antiepileptic drugs (AEDs) plus other regimens. Four subjects showed good responses to levetiracetam (LEV) alone or in combination with other AEDs, and one case (1\/3) achieved complete freedom from seizures with a ketogenic diet (KD). All patients exhibited severe to profound global developmental delay. Five novel heterozygous de novo <jats:italic>STXBP1<\/jats:italic> mutations were discovered in patients with EOEE from China. <jats:italic>STXBP1<\/jats:italic> mutational analysis should be performed in cases of EOEE of unknown etiology. LEV as monotherapy or adjunctive therapy with other regimens, as well as KD should be considered for management of this patient group.<\/jats:p>","DOI":"10.1111\/gbb.12492","type":"journal-article","created":{"date-parts":[[2018,6,13]],"date-time":"2018-06-13T08:02:04Z","timestamp":1528876924000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":32,"title":["De novo mutations of <i>STXBP1<\/i> in Chinese children with early onset epileptic encephalopathy"],"prefix":"10.1111","volume":"17","author":[{"given":"T.","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Liao","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6777-7434","authenticated-orcid":false,"given":"L.","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Neurology Children's Hospital of Chongqing Medical University  Chongqing China"},{"name":"Ministry of Education Key Laboratory of Child Development and Disorders  Chongqing China"},{"name":"Key Laboratory of Pediatrics in Chongqing  Chongqing China"},{"name":"Chongqing International Science and Technology Cooperation Center for Child Development and Disorders  Chongqing 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