{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T08:56:06Z","timestamp":1791190566625,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,10,29]],"date-time":"2015-10-29T00:00:00Z","timestamp":1446076800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001677","name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2015,12]]},"abstract":"Summary<\/jats:title>\n \n Objective<\/jats:title>\n \n Mutations in the syntaxin binding protein 1 gene (\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n ) have been associated mostly with early onset epileptic encephalopathies (\n EOEE<\/jats:styled-content>\n s) and Ohtahara syndrome, with a mutation detection rate of approximately 10%, depending on the criteria of selection of patients. The aim of this study was to retrospectively describe clinical and electroencephalography (\n EEG<\/jats:styled-content>\n ) features associated with\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n \u2010related epilepsies to orient molecular screening.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We screened\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n in a cohort of 284 patients with epilepsy associated with a developmental delay\/intellectual disability and brain magnetic resonance imaging (\n MRI<\/jats:styled-content>\n ) without any obvious structural abnormality. We reported on patients with a mutation and a microdeletion involving\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n found using array comparative genomic hybridization (\n CGH<\/jats:styled-content>\n ).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We found a mutation of\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n in 22 patients and included 2 additional patients with a deletion including\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n . In 22 of them, epilepsy onset was before 3 months of age.\n EEG<\/jats:styled-content>\n at onset was abnormal in all patients, suppression\u2010burst and multifocal abnormalities being the most common patterns. The rate of patients carrying a mutation ranged from 25% in Ohtahara syndrome to <5% in patients with an epilepsy beginning after 3 months of age. Epilepsy improved over time for most patients, with an evolution to West syndrome in half. Patients had moderate to severe developmental delay with normal head growth. Cerebellar syndrome with ataxic gait and\/or tremor was present in 60%.\n <\/jats:p>\n <\/jats:sec>\n \n Significance<\/jats:title>\n \n Our data confirm that\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n mutations are associated with neonatal\u2010infantile epileptic encephalopathies. The initial key features highlighted in the cohort of early epileptic patients are motor seizures either focal or generalized, abnormal initial interictal\n EEG<\/jats:styled-content>\n , and normal head growth. In addition, we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider\n \n STXBP<\/jats:styled-content>\n 1\n <\/jats:italic>\n molecular screening.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/epi.13214","type":"journal-article","created":{"date-parts":[[2015,10,30]],"date-time":"2015-10-30T00:41:18Z","timestamp":1446165678000},"page":"1931-1940","source":"Crossref","is-referenced-by-count":59,"title":["Epileptic patients with de novo\n \n STXBP<\/scp>\n 1\n <\/i>\n mutations: Key clinical features based on 24 cases"],"prefix":"10.1111","volume":"56","author":[{"given":"Chlo\u00e9","family":"Di Meglio","sequence":"first","affiliation":[{"name":"Pediatric Neurology Department Timone Children Hospital Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[{"name":"INSERM U1028 CNRS UMR5292 Laboratory of Molecular Genetics Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Villeneuve","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Timone Children Hospital Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Lacoste","sequence":"additional","affiliation":[{"name":"Aix Marseille University INSERM UMR_S 910 Marseille France"},{"name":"Medical Genetics Department Timone Children Hospital Marseille France"},{"name":"Aix Marseille University GMGF Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Affef","family":"Abidi","sequence":"additional","affiliation":[{"name":"Aix Marseille University INSERM UMR_S 910 Marseille France"},{"name":"Aix Marseille University GMGF Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Cacciagli","sequence":"additional","affiliation":[{"name":"Aix Marseille University INSERM UMR_S 910 Marseille France"},{"name":"Medical Genetics Department Timone Children Hospital Marseille France"},{"name":"Aix Marseille University GMGF Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cilia","family":"Altuzarra","sequence":"additional","affiliation":[{"name":"Department of Pediatrics St. Jacques Hospital Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agathe","family":"Roubertie","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Montpellier University Hospital Montpellier France"},{"name":"Institute for Neurosciences of Montpellier (INM) INSERM U 1051 Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Trousseau Hospital AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Renaldo\u2010Robin","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Trousseau Hospital AP\u2010HP Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Nantes University Hospital Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnes","family":"Gautier","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nantes University Hospital Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Husson","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Bordeaux University Hospital Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Cances","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Toulouse University Hospital Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Metreau","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department Bic\u00eatre Hospital Kremlin\u2010Bic\u00eatre France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Laroche","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Limoges University Hospital Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mondher","family":"Chouchane","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Dijon University Hospital Dijon 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