{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T01:17:30Z","timestamp":1792545450729,"version":"4.5.0"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,3,30]],"date-time":"2023-03-30T00:00:00Z","timestamp":1680134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to <jats:italic>SCN1A<\/jats:italic> mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>At present, 281 individuals with DS and a confirmed <jats:italic>SCN1A<\/jats:italic> mutation are included. Most patients have data available on epilepsy (n\u00a0=\u00a0263) and their overall neurological condition (n\u00a0=\u00a0255), based on at least one follow\u2010up update. Median age at first clinical assessment was 2\u2009years (IQR 0\u20139) while at last follow\u2010up was 11\u2009years (IQR 5\u201318.5). During the 7\u2010year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000\u2010person\u2010years. When analyzing clinical changes over the first 5\u2010year follow\u2010up, we observed a significant difference in cognitive function (<jats:italic>P<\/jats:italic> &lt;\u20090.001), an increased prevalence of behavioral disorders including attention deficit (<jats:italic>P<\/jats:italic> &lt;\u20090.001), a significant worsening of language (<jats:italic>P<\/jats:italic> =\u20090.001), and intellectual disability (<jats:italic>P<\/jats:italic> &lt;\u20090.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>The Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high\u2010quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its framework makes it improvable based on growing experience with its use and easily adaptable to other rare and complex epilepsy syndromes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.12730","type":"journal-article","created":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T09:11:44Z","timestamp":1679303504000},"page":"517-534","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["A registry for Dravet syndrome: The Italian experience"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5639-1969","authenticated-orcid":false,"given":"Simona","family":"Balestrini","sequence":"first","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCSS University of Florence  Florence Italy"},{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology  London UK"},{"name":"Chalfont Centre for Epilepsy  Buckinghamshire UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola","family":"Doccini","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCSS University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Giometto","sequence":"additional","affiliation":[{"name":"Unit of Medical Statistics, Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ersilia","family":"Lucenteforte","sequence":"additional","affiliation":[{"name":"Unit of Medical Statistics, Department of Clinical and Experimental Medicine University of Pisa  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"De\u00a0Masi","sequence":"additional","affiliation":[{"name":"Clinical Trial Center University Hospital Careggi  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Giarola","sequence":"additional","affiliation":[{"name":"Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona Research Center for Pediatric Epilepsies  Verona Italy"},{"name":"Dravet Italia Onlus  Verona Italy"},{"name":"Rare Epilepsies Alliance  Verona Italy"},{"name":"ERN EpiCare (Epag)  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9860-8246","authenticated-orcid":false,"given":"Isabella","family":"Brambilla","sequence":"additional","affiliation":[{"name":"Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona Research Center for Pediatric Epilepsies  Verona Italy"},{"name":"Dravet Italia Onlus  Verona Italy"},{"name":"Rare Epilepsies Alliance  Verona Italy"},{"name":"ERN EpiCare (Epag)  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Pieroni","sequence":"additional","affiliation":[{"name":"Fondazione Toscana \u201cG. Monasterio\u201d  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Perulli","sequence":"additional","affiliation":[{"name":"Pediatric Neuropsychiatry, Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanit\u00e0 Pubblica Fondazione Policlinico Universitario Gemelli, IRCCS \u2013 Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenica","family":"Battaglia","sequence":"additional","affiliation":[{"name":"Pediatric Neuropsychiatry, Dipartimento di Scienze della Salute della Donna, del Bambino e di Sanit\u00e0 Pubblica Fondazione Policlinico Universitario Gemelli, IRCCS \u2013 Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8120-0287","authenticated-orcid":false,"given":"Nicola","family":"Specchio","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Bambino Ges\u00f9 Children's Hospital, IRCSS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Ragona","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCSS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0170-6836","authenticated-orcid":false,"given":"Tiziana","family":"Granata","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCSS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Pellacani","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCSS University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annarita","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Department of Developmental Neuroscience IRCCS Fondazione Stella Maris  Pisa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9212-2691","authenticated-orcid":false,"given":"Carla","family":"Marini","sequence":"additional","affiliation":[{"name":"Department of Child Neuropsychiatry Children's Hospital  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4403-6342","authenticated-orcid":false,"given":"Sara","family":"Matricardi","sequence":"additional","affiliation":[{"name":"Department of Child Neuropsychiatry Children's Hospital  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Cesaroni","sequence":"additional","affiliation":[{"name":"Department of Child Neuropsychiatry Children's Hospital  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucio","family":"Giordano","sequence":"additional","affiliation":[{"name":"Paediatric Neurology and Psychiatry Unit, Spedali Civili Children's Hospital University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Accorsi","sequence":"additional","affiliation":[{"name":"Paediatric Neurology and Psychiatry Unit, Spedali Civili Children's Hospital University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2388-573X","authenticated-orcid":false,"given":"Vittorio","family":"Sciruicchio","sequence":"additional","affiliation":[{"name":"Children Epilepsy and EEG Center  Bari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Tinuper","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Neuromotor Sciences University of Bologna  Bologna Italy"},{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna UOC Neuropsichiatria dell'et\u00e0 pediatrica  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tullio","family":"Messana","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna UOC Neuropsichiatria dell'et\u00e0 pediatrica  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0322-2640","authenticated-orcid":false,"given":"Angelo","family":"Russo","sequence":"additional","affiliation":[{"name":"IRCCS Istituto delle Scienze Neurologiche di Bologna UOC Neuropsichiatria dell'et\u00e0 pediatrica  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Pruna","sequence":"additional","affiliation":[{"name":"Child Neurology and Epileptology Unit, Paediatric Department ARNAS Brotzu  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Nosadini","sequence":"additional","affiliation":[{"name":"Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health University Hospital of Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5828-7070","authenticated-orcid":false,"given":"Valentina","family":"De\u00a0Giorgis","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Psychiatry IRCSS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8505-3894","authenticated-orcid":false,"given":"Davide","family":"Caputo","sequence":"additional","affiliation":[{"name":"Epilepsy Center, ASST Santi Paolo Carlo, Health Sciences Department University of Milan  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Residras Collaboration Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serena","family":"Pellegrin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Bolzano Hospital  Bolzano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3103-230X","authenticated-orcid":false,"given":"Tommaso","family":"Lo\u00a0Barco","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics 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, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernardo","family":"Dalla\u00a0Bernardina","sequence":"additional","affiliation":[{"name":"Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona Research Center for Pediatric Epilepsies  Verona Italy"},{"name":"Child Neuropsychiatry, Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7272-7079","authenticated-orcid":false,"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Neuroscience Department, Meyer Children's Hospital IRCSS University of Florence  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab162"},{"issue":"3","key":"e_1_2_9_3_1","first-page":"S2","article-title":"Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies","volume":"60","author":"Mei D","year":"2019","journal-title":"Epilepsia"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1754"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.17015"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.01.025"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)03157-3"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1611618"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(19)32500-0"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2019.4113"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13311-021-01095-6"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02466.x"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2010.02925.x"},{"issue":"3","key":"e_1_2_9_14_1","first-page":"S49","article-title":"Dravet syndrome: early electroclinical findings and long\u2010term outcome in adolescents and adults","volume":"60","author":"Darra F","year":"2019","journal-title":"Epilepsia"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr129"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03001.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12532"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03002.x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2016.10.006"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cts.12501"},{"key":"e_1_2_9_21_1","unstructured":"Residras.Dravet registry [Internet]. [cited 2022 Jan 3]. Available fromhttps:\/\/www.dravet\u2010registry.com\/registry"},{"key":"e_1_2_9_22_1","unstructured":"Dravet Italia Onlus [Internet]. [cited 2022 Jan 3]. Available fromhttps:\/\/www.dravet.it"},{"key":"e_1_2_9_23_1","unstructured":"Fondazione Monasterio [Internet]. [cited 2022 Jan 3]. Available fromhttps:\/\/www.monasterio.it\/"},{"key":"e_1_2_9_24_1","volume-title":"Dravet syndrome","author":"Dravet C","year":"2023"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.13121"},{"key":"e_1_2_9_26_1","volume-title":"Autism diagnostic observation schedule\u20132nd edition (ADOS\u20102)","author":"Lord C","year":"2012"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890425596"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/sdata.2016.18"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.3233\/ISU-170824"},{"key":"e_1_2_9_30_1","unstructured":"European Commission.Set of Common Data Elements [Internet]. [cited 2022 Jan 3]. Available fromhttps:\/\/eu\u2010rd\u2010platform.jrc.ec.europa.eu\/set\u2010of\u2010common\u2010data\u2010elements_en"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh061"},{"key":"e_1_2_9_32_1","unstructured":"Human Phenotype Ontology (HPO) [Internet]. [cited 2022 Jan 3]. Available fromhttps:\/\/hpo.jax.org\/app\/"},{"key":"e_1_2_9_33_1","unstructured":"Orphanet Rare Disease Ontology (ORDO) [Internet]. [cited 2022 Jan 3]. Available fromhttps:\/\/bioportal.bioontology.org\/ontologies\/ORDO"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2006.00688.x"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2020.9151"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40263-015-0281-8"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1157.1999.tb00746.x"},{"key":"e_1_2_9_39_1","unstructured":"Netre [Internet]. Available fromhttp:\/\/netre.de\/"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1072-y"},{"key":"e_1_2_9_41_1","unstructured":"EpiCare Registry [Internet]. Available fromhttps:\/\/epi\u2010care.eu\/epicares\u2010activities\/registry\u2010project\/"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12730","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12730","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T04:58:57Z","timestamp":1692507537000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12730"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,30]]},"references-count":40,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/epi4.12730"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12730","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,30]]},"assertion":[{"value":"2022-08-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}