{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T20:53:30Z","timestamp":1790456010634,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T00:00:00Z","timestamp":1730073600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2024,12]]},"abstract":"Abstract<\/jats:title>\n \n Objective<\/jats:title>\n \n EEG patterns and quantitative EEG (qEEG) features have been poorly explored in monogenic epilepsies. Herein, we investigate regional differences in EEG frequency composition in patients with\n STXBP1<\/jats:italic>\n developmental and epileptic encephalopathy (\n STXBP1<\/jats:italic>\n \u2010DEE).\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We conducted a retrospective study collecting electroclinical data of patients with\n STXBP1<\/jats:italic>\n \u2010DEE and two control groups of patients with DEEs of different etiologies and typically developing individuals matched for age and sex. We performed a (1) visual EEG assessment, (b) qEEG analysis, and (c) electrical source imaging (ESI). We quantified the relative power (RP) of four frequency bands (\u03b1 \u03b2, \u03b8, \u03b4), in two electrode groups (anterior\/posterior), and compared their averages and dynamics (standard deviation [SD] over time). The ESI was performed by applying the standard Distributed Source Modeling algorithm.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We analyzed 42 EEG studies in 19 patients with\n STXBP1<\/jats:italic>\n \u2010DEE (10 female), with a median age at recordings of 9.6\u2009years (range 9\u2009months to 29\u2009years). The \u03b4RP was higher in recordings of\n STXBP1<\/jats:italic>\n \u2010DEE (\n p<\/jats:italic>\n \u2009<\u2009.001) compared to both control groups, suggesting the pathogenicity and\n STXBP1<\/jats:italic>\n \u2010specificity of these findings. In\n STXBP1<\/jats:italic>\n \u2010DEE, the \u03b4RP was significantly higher in the anterior electrode group compared to the posterior one (\n p<\/jats:italic>\n \u2009=\u2009.003). There was no correlation between the anterior \u03b4RP and the epilepsy focus, age at recordings, and concomitant medications The ESI modeling of this activity showed a widespread involvement of the dorsomesial frontal cortex, suggesting a large corticosubcortical pathologic network. Finally, we identified two groups of recordings: cluster.1 with higher anterior \u03b4RP and low dynamics and cluster.2 with lower \u03b4RP and higher dynamics. Patients in cluster.1 had a more severe epilepsy and neurological phenotype compared to patients in cluster 2.\n <\/jats:p>\n <\/jats:sec>\n \n Significance<\/jats:title>\n \n The qEEG analysis showed a predominant frontal slow activity as a specific\n STXBP1<\/jats:italic>\n feature that correlates with the severity of the phenotype and may represent a biomarker for prospective longitudinal studies of\n STXBP1\u2010<\/jats:italic>\n DEE.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/epi.18154","type":"journal-article","created":{"date-parts":[[2024,10,28]],"date-time":"2024-10-28T03:20:05Z","timestamp":1730085605000},"page":"3595-3606","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Quantitative\n EEG<\/scp>\n biomarkers for\n \n STXBP1<\/i>\n <\/scp>\n \u2010related disorders"],"prefix":"10.1111","volume":"65","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6945-6151","authenticated-orcid":false,"given":"Alberto","family":"Cossu","sequence":"first","affiliation":[{"name":"Department of Clinical Neurophysiology Danish Epilepsy Centre Filadelfia Dianalund Denmark"},{"name":"Child Neuropsychiatry Unit, Department of Children and Maternal Health AOUI Verona, Full Member of European Reference Network EpiCARE Verona Italy"},{"name":"Department of Innovation Medicine and Engineering University of Verona Verona Italy"},{"name":"Research Center for Pediatric Epilepsies (CREP)\u2014Department of Children and Maternal Health AOUI Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4893-9768","authenticated-orcid":false,"given":"Francesca","family":"Furia","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Danish Epilepsy Centre Filadelfia Dianalund Denmark"},{"name":"Department of Clinical Genetics and Precision Medicine Danish Epilepsy Centre Filadelfia Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5584-4724","authenticated-orcid":false,"given":"Jacopo","family":"Proietti","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, Department of Children and Maternal Health AOUI Verona, Full Member of European Reference Network EpiCARE Verona Italy"},{"name":"Department of Innovation Medicine and Engineering University of Verona Verona Italy"},{"name":"Research Center for Pediatric Epilepsies (CREP)\u2014Department of Children and Maternal Health AOUI Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2242-6929","authenticated-orcid":false,"given":"Caterina","family":"Ancora","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Precision Medicine Danish Epilepsy Centre Filadelfia Dianalund Denmark"},{"name":"Padua University Padua Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Reale","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, Department of Children and Maternal Health AOUI Verona, Full Member of European Reference Network EpiCARE Verona Italy"},{"name":"Department of Innovation Medicine and Engineering University of Verona Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1062-8438","authenticated-orcid":false,"given":"Francesca","family":"Darra","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit, Department of Children and Maternal Health AOUI Verona, Full Member of European Reference Network EpiCARE Verona Italy"},{"name":"Department of Innovation Medicine and Engineering University of Verona Verona Italy"},{"name":"Research Center for Pediatric Epilepsies (CREP)\u2014Department of Children and Maternal Health AOUI Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3295-0655","authenticated-orcid":false,"given":"Roberto","family":"Previtali","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Precision Medicine Danish Epilepsy Centre Filadelfia Dianalund Denmark"},{"name":"University of Milano Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo Dalla","family":"Bernardina","sequence":"additional","affiliation":[{"name":"Research Center for Pediatric Epilepsies (CREP)\u2014Department of Children and Maternal Health AOUI Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5309-2514","authenticated-orcid":false,"given":"Guido","family":"Rubboli","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Precision Medicine Danish Epilepsy Centre Filadelfia Dianalund Denmark"},{"name":"University of Copenhagen Copenhagen Denmark"},{"name":"Member of ERN\u2010EPICARE Dianalund Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6035-6581","authenticated-orcid":false,"given":"Sandor","family":"Beniczky","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Danish Epilepsy Centre Filadelfia Dianalund Denmark"},{"name":"Member of ERN\u2010EPICARE Dianalund Denmark"},{"name":"Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9664-1448","authenticated-orcid":false,"given":"Rikke S.","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Precision Medicine Danish Epilepsy Centre Filadelfia Dianalund Denmark"},{"name":"Member of ERN\u2010EPICARE Dianalund Denmark"},{"name":"University of Southern Denmark 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