{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:40:28Z","timestamp":1786977628693,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T00:00:00Z","timestamp":1628121600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012360","name":"Heart of England NHS Foundation Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012360","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015250","name":"NIHR Bristol Biomedical Research Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015250","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018726","name":"Epilepsy Society","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100018726","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000289","name":"Cancer Research UK","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000289","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT104033AIA"],"award-info":[{"award-number":["WT104033AIA"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow\u2010up at a tertiary epilepsy center. Individuals with epilepsy and other features of unknown cause from our unit underwent whole\u2010genome sequencing through the 100\u00a0000 Genomes Project. Virtual gene panels were applied to frequency\u2010filtered variants based on phenotype summary. Of 1078 individuals recruited, 8 (0.74%) were identified to have a pathogenic or likely pathogenic variant in\n                    <jats:italic>SCN1A<\/jats:italic>\n                    . Variant types were as follows: nonsense (stopgain) in five (62.5%) and missense in three (37.5%). Detailed review of childhood history confirmed a phenotype compatible with Dravet syndrome. Median age at genetic diagnosis was 44.5\u00a0years (range 28\u201052\u00a0years). Tonic\u2010clonic seizures were ongoing in all despite polytherapy including valproate. All had a history of fever sensitivity and myoclonic seizures, which were ongoing in two (25%) and three (37.5%) individuals, respectively. Salient features of Dravet syndrome may be less apparent in adulthood, making clinical diagnosis difficult. Regardless of age, benefits of a genetic diagnosis include access to syndrome\u2010specific treatment options, avoidance of harmful drugs, and monitoring for common complications.\n                  <\/jats:p>","DOI":"10.1002\/epi4.12525","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T03:36:01Z","timestamp":1626406561000},"page":"770-776","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Late diagnoses of Dravet syndrome: How many individuals are we missing?"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8456-0029","authenticated-orcid":false,"given":"Katri","family":"Silvennoinen","sequence":"first","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"Chalfont Centre for Epilepsy Chalfont St Peter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clinda","family":"Puvirajasinghe","sequence":"additional","affiliation":[{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsty","family":"Hudgell","sequence":"additional","affiliation":[{"name":"St. Elizabeth's Centre Much Hadham Herts UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meneka K.","family":"Sidhu","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"Chalfont Centre for Epilepsy Chalfont St Peter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Martins Custodio","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"Chalfont Centre for Epilepsy Chalfont St Peter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy D.","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"North East Thames Regional Genetics Service Great Ormond Street Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5639-1969","authenticated-orcid":false,"given":"Simona","family":"Balestrini","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"Chalfont Centre for Epilepsy Chalfont St Peter UK"},{"name":"Children's Hospital A. Meyer University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1511-5893","authenticated-orcid":false,"given":"Sanjay M.","family":"Sisodiya","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Epilepsy UCL Queen Square Institute of Neurology London UK"},{"name":"Chalfont Centre for Epilepsy Chalfont St Peter UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.02994.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16297"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr129"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cophys.2017.12.007"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.02997.x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2020-002522"},{"issue":"1","key":"e_1_2_8_8_1","first-page":"287","article-title":"Rare disease conditions eligibility criteria. 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Available from:https:\/\/www.acgs.uk.com\/media\/11631\/uk\u2010practice\u2010guidelines\u2010for\u2010variant\u2010classification\u2010v4\u201001\u20102020.pdf"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awz195"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa029"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12532"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2020.01.005"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-020-0409-4"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2016.09.007"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12525","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/epi4.12525","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12525","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T01:10:13Z","timestamp":1693185013000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12525"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,5]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/epi4.12525"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12525","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,5]]},"assertion":[{"value":"2021-05-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}