{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:55:08Z","timestamp":1791190508324,"version":"4.1.0"},"reference-count":20,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2013,10,29]],"date-time":"2013-10-29T00:00:00Z","timestamp":1383004800000},"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":[[2014,2]]},"abstract":"<jats:p>\n                    Mutations in\n                    <jats:italic>STXBP1<\/jats:italic>\n                    gene, encoding the syntaxin binding protein 1, have been recently described in Ohtahara syndrome, or early infantile epileptic encephalopathy with suppression-burst pattern, and in other early-onset epileptic encephalopathies. A 3-year-old boy affected by epileptic encephalopathy started at 8 months of age is described. Focal epilepsy was characterized by drug resistance seizures with multifocal interictal and ictal electroencephalographic (EEG) features and variable EEG focus. Direct sequencing of the\n                    <jats:italic>STXBP1<\/jats:italic>\n                    gene showed a novel de novo mutation (c.751G&gt;A), leading to a p.Ala251Thr substitution. Based on reported data, treatment with vigabatrin was attempted and patient became immediately seizure free for 4 months. The present case further expands the clinical spectrum of \u201c\n                    <jats:italic>STXBP1<\/jats:italic>\n                    -related encephalopathy\u201d suggesting molecular analysis of\n                    <jats:italic>STXBP1<\/jats:italic>\n                    in early onset epileptic encephalopathies of unknown etiology (with onset within the first year of life). In addition, the case provides valuable suggestions on seizures treatment in\n                    <jats:italic>STXBP1<\/jats:italic>\n                    mutated subjects.\n                  <\/jats:p>","DOI":"10.1177\/0883073813506936","type":"journal-article","created":{"date-parts":[[2013,10,29]],"date-time":"2013-10-29T22:28:23Z","timestamp":1383085703000},"page":"249-253","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":16,"title":["A Novel Mutation in\n                    <i>STXBP1<\/i>\n                    Gene in a Child With Epileptic Encephalopathy and an Atypical Electroclinical Pattern"],"prefix":"10.1177","volume":"29","author":[{"given":"Romina","family":"Romaniello","sequence":"first","affiliation":[{"name":"Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Zucca","sequence":"additional","affiliation":[{"name":"Neurophysiopathology Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Tenderini","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Arrigoni","sequence":"additional","affiliation":[{"name":"Neuroimaging Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ragona","sequence":"additional","affiliation":[{"name":"Child Neurology Department, Foundation IRCCS Istituto \u201cCarlo Besta,\u201d Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Zorzi","sequence":"additional","affiliation":[{"name":"Child Neurology Department, Foundation IRCCS Istituto \u201cCarlo Besta,\u201d Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Teresa","family":"Bassi","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Borgatti","sequence":"additional","affiliation":[{"name":"Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, 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