{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:57:57Z","timestamp":1789070277534,"version":"build-2803163510"},"reference-count":42,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,11,24]],"date-time":"2024-11-24T00:00:00Z","timestamp":1732406400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100006095","name":"Helse S\u00f8r-\u00d8st RHF","doi-asserted-by":"publisher","award":["2018102"],"award-info":[{"award-number":["2018102"]}],"id":[{"id":"10.13039\/501100006095","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.es","clinicalkey.com.au","clinicalkey.com","epilepsybehavior.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Epilepsy & Behavior"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1016\/j.yebeh.2024.110174","type":"journal-article","created":{"date-parts":[[2024,12,22]],"date-time":"2024-12-22T00:50:01Z","timestamp":1734828601000},"page":"110174","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["Impact of genetic testing in developmental and epileptic encephalopathy\u2013 parents\u2019 perspective"],"prefix":"10.1016","volume":"163","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4632-4903","authenticated-orcid":false,"given":"Ida","family":"Stenshorne","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marte Roa","family":"Syvertsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anette","family":"Ramm-Pettersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4871-112X","authenticated-orcid":false,"given":"Kaja K.","family":"Selmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5499-0818","authenticated-orcid":false,"given":"Jeanette","family":"Koht","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari Wold","family":"Henriksen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.yebeh.2024.110174_b0005","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/epi.13709","article-title":"ILAE classification of the epilepsies: Position paper of the ILAE commission for classification and terminology","volume":"58","author":"Scheffer","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2024.110174_b0010","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.ejpn.2019.12.023","article-title":"Deciphering the concepts behind \u201cEpileptic encephalopathy\u201d and \u201cDevelopmental and epileptic encephalopathy\u201d","volume":"24","author":"Scheffer","year":"2020","journal-title":"Eur J Paediatr Neurol"},{"key":"10.1016\/j.yebeh.2024.110174_b0015","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1111\/epi.17239","article-title":"ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions","volume":"63","author":"Zuberi","year":"2022","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2024.110174_b0020","doi-asserted-by":"crossref","first-page":"965282","DOI":"10.3389\/fped.2022.965282","article-title":"Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway","volume":"10","author":"Stenshorne","year":"2022","journal-title":"Front Pediatr"},{"key":"10.1016\/j.yebeh.2024.110174_b0025","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/nrneurol.2016.98","article-title":"Cognitive and neurodevelopmental comorbidities in paediatric epilepsy","volume":"12","author":"Nickels","year":"2016","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.yebeh.2024.110174_b0030","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1016\/j.pediatrneurol.2020.12.001","article-title":"Early-onset developmental and epileptic encephalopathies of infancy: an overview of the genetic basis and clinical features","volume":"116","author":"Morrison-Levy","year":"2021","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.yebeh.2024.110174_b0035","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1111\/epi.12954","article-title":"Diagnostic yield of genetic testing in epileptic encephalopathy in childhood","volume":"56","author":"Mercimek-Mahmutoglu","year":"2015","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2024.110174_b0040","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1111\/dmcn.12096","article-title":"Good outcome in patients with early dietary treatment of GLUT-1 deficiency syndrome: results from a retrospective Norwegian study","volume":"55","author":"Ramm-Pettersen","year":"2013","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.yebeh.2024.110174_b0045","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/mgg3.355","article-title":"Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness","volume":"6","author":"Palmer","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.yebeh.2024.110174_b0050","doi-asserted-by":"crossref","first-page":"E1770","DOI":"10.1212\/WNL.0000000000011655","article-title":"Diagnostic yield of whole genome sequencing after nondiagnostic exome sequencing or gene panel in developmental and epileptic encephalopathies","volume":"96","author":"Palmer","year":"2021","journal-title":"Neurology"},{"key":"10.1016\/j.yebeh.2024.110174_b0055","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1136\/jmedgenet-2015-103263","article-title":"Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis","volume":"53","author":"Trump","year":"2016","journal-title":"J Med Genet"},{"key":"10.1016\/j.yebeh.2024.110174_b0060","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1159\/000448369","article-title":"Gene panel testing in epileptic encephalopathies and familial epilepsies","volume":"7","author":"M\u00f8ller","year":"2016","journal-title":"Mol Syndromol"},{"key":"10.1016\/j.yebeh.2024.110174_b0065","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1080\/14737159.2019.1573144","article-title":"From next-generation sequencing to targeted treatment of non-acquired epilepsies","volume":"19","author":"M\u00f8ller","year":"2019","journal-title":"Expert Rev Mol Diagn"},{"key":"10.1016\/j.yebeh.2024.110174_b0070","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.eplepsyres.2019.03.001","article-title":"Identifying mutations in epilepsy genes: Impact on treatment selection","volume":"152","author":"Perucca","year":"2019","journal-title":"Epilepsy Res"},{"key":"10.1016\/j.yebeh.2024.110174_b0075","doi-asserted-by":"crossref","first-page":"112075","DOI":"10.1016\/j.biopha.2021.112075","article-title":"Gene therapy in epilepsy","volume":"143","author":"Zhang","year":"2021","journal-title":"Biomed Pharmacother"},{"key":"10.1016\/j.yebeh.2024.110174_b0080","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1111\/jnc.15168","article-title":"Recent advances in gene therapy for neurodevelopmental disorders with epilepsy","volume":"157","author":"Turner","year":"2021","journal-title":"J Neurochem"},{"key":"10.1016\/j.yebeh.2024.110174_b0085","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1080\/17512433.2018.1386553","article-title":"A resurging boom in new drugs for epilepsy and brain disorders","volume":"11","author":"Younus","year":"2018","journal-title":"Expert Rev Clin Pharmacol"},{"key":"10.1016\/j.yebeh.2024.110174_b0090","doi-asserted-by":"crossref","first-page":"108324","DOI":"10.1016\/j.yebeh.2021.108324","article-title":"Impact of developmental and epileptic encephalopathies on caregivers: A literature review","volume":"124","author":"Gallop","year":"2021","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2024.110174_b0095","doi-asserted-by":"crossref","first-page":"107538","DOI":"10.1016\/j.yebeh.2020.107538","article-title":"The impact of severe pediatric epilepsy on experienced stress and psychopathology in parents","volume":"113","author":"Jakobsen","year":"2020","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2024.110174_b0100","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.yebeh.2005.10.003","article-title":"Posttraumatic stress disorder and major depressive disorder is common in parents of children with epilepsy","volume":"8","author":"Iseri","year":"2006","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2024.110174_b0105","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.2147\/NDT.S158249","article-title":"Mothers and fathers of children with epilepsy: gender differences in post-traumatic stress symptoms and correlations with mood spectrum symptoms","volume":"14","author":"Carmassi","year":"2018","journal-title":"Neuropsychiatr Dis Treat"},{"key":"10.1016\/j.yebeh.2024.110174_b0110","doi-asserted-by":"crossref","first-page":"2344","DOI":"10.1111\/j.1528-1167.2009.02276.x","article-title":"Depressive symptoms among mothers of children with epilepsy: A review of prevalence, associated factors, and impact on children","volume":"50","author":"Ferro","year":"2009","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2024.110174_b0115","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1600-0404.2009.01184.x","article-title":"Depression, anxiety and quality of life in parents of children with epilepsy","volume":"120","author":"Lv","year":"2009","journal-title":"Acta Neurol Scand"},{"key":"10.1016\/j.yebeh.2024.110174_b0120","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.yebeh.2017.12.020","article-title":"Symptoms of depression, anxiety, and stress in parents of young children with epilepsy: A case controlled population-based study","volume":"80","author":"Reilly","year":"2018","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2024.110174_b0125","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1111\/epi.13326","article-title":"Parental anxiety in childhood epilepsy: A systematic review","volume":"57","author":"Jones","year":"2016","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2024.110174_b0130","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.seizure.2014.09.003","article-title":"The perceived burden of epilepsy: Impact on the quality of life of children and adolescents and their families","volume":"24","author":"Cianchetti","year":"2015","journal-title":"Seizure"},{"key":"10.1016\/j.yebeh.2024.110174_b0135","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1111\/epi.12586","article-title":"Parent and family stress factors predict health\u2010related quality in pediatric patients with new\u2010onset epilepsy","volume":"55","author":"Wu","year":"2014","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2024.110174_b0140","doi-asserted-by":"crossref","first-page":"1912","DOI":"10.1111\/epi.13900","article-title":"Emotional well\u2010being in children with epilepsy: Family factors as mediators and moderators","volume":"58","author":"Goodwin","year":"2017","journal-title":"Epilepsia"},{"key":"10.1016\/j.yebeh.2024.110174_b0145","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.yebeh.2018.03.008","article-title":"A systematic review of quality of life in parents of children with epilepsy","volume":"82","author":"Puka","year":"2018","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2024.110174_b0150","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1002\/epi4.12458","article-title":"Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families","volume":"6","author":"Jeffrey","year":"2021","journal-title":"Epilepsia Open"},{"key":"10.1016\/j.yebeh.2024.110174_b0155","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1111\/dmcn.14971","article-title":"Psychosocial impact of genetic testing on parents of children with developmental and epileptic encephalopathy","volume":"64","author":"Nevin","year":"2022","journal-title":"Dev Med Child Neurol"},{"key":"10.1016\/j.yebeh.2024.110174_b0160","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1111\/epi.12550","article-title":"ILAE Official Report: A practical clinical definition of epilepsy","volume":"55","author":"Fisher","year":"2014","journal-title":"Epilepsia (Copenhagen)"},{"key":"10.1016\/j.yebeh.2024.110174_b0165","unstructured":"Regionsenter for habiliteringstjenesten for barn og unge (RHABU). Regional retningslinje for diagnostisk utredning av barn og unge ved sp\u00f8rsm\u00e5l om utviklingshemming [pdf]. In. Oslo: Oslo universitetssykehus."},{"key":"10.1016\/j.yebeh.2024.110174_b0170","doi-asserted-by":"crossref","first-page":"104164","DOI":"10.1016\/j.ejmg.2021.104164","article-title":"\u2018More than a box of puzzles\u2019: Understanding the parental experience of having a child with a rare genetic condition","volume":"64","author":"Fitzgerald","year":"2021","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.yebeh.2024.110174_b0175","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1097\/00005721-200605000-00010","article-title":"Parental experience of a pediatric genetic referral","volume":"31","author":"Skirton","year":"2006","journal-title":"MCN Am J Matern Child Nurs"},{"key":"10.1016\/j.yebeh.2024.110174_b0180","doi-asserted-by":"crossref","first-page":"1496","DOI":"10.1002\/ajmg.a.36525","article-title":"Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice","volume":"164A","author":"Ashtiani","year":"2014","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.yebeh.2024.110174_b0185","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1111\/jar.12602","article-title":"What do parents expect from a genetic diagnosis of their child with intellectual disability?","volume":"32","author":"Dikow","year":"2019","journal-title":"J Appl Res Intellect Disabil"},{"key":"10.1016\/j.yebeh.2024.110174_b0190","doi-asserted-by":"crossref","first-page":"192","DOI":"10.5698\/1535-7511-15.4.192","article-title":"Genetics of epilepsy in clinical practice: genetics of epilepsy in clinical practice","volume":"15","author":"Berkovic","year":"2015","journal-title":"Epilepsy Curr"},{"key":"10.1016\/j.yebeh.2024.110174_b0195","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1038\/s41436-019-0730-8","article-title":"Parents\u2019 perceptions of personal utility of exome sequencing results","volume":"22","author":"Mollison","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.yebeh.2024.110174_b0200","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.yebeh.2017.06.031","article-title":"Dravet syndrome: Characteristics, comorbidities, and caregiver concerns","volume":"74","author":"Villas","year":"2017","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.yebeh.2024.110174_b0205","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1017\/S0012162206001629","article-title":"Coping with Dravet syndrome: parental experiences with a catastrophic epilepsy","volume":"48","author":"Nolan","year":"2006","journal-title":"Dev med child neurol"},{"key":"10.1016\/j.yebeh.2024.110174_b0210","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1111\/1467-9566.12815","article-title":"The cycle of uncertainty: parents\u2019 experiences of childhood epilepsy","volume":"41","author":"Webster","year":"2019","journal-title":"Sociol Health Illn"}],"container-title":["Epilepsy & Behavior"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505024005560?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1525505024005560?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T15:00:43Z","timestamp":1739458843000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1525505024005560"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":42,"alternative-id":["S1525505024005560"],"URL":"https:\/\/doi.org\/10.1016\/j.yebeh.2024.110174","relation":{},"ISSN":["1525-5050"],"issn-type":[{"value":"1525-5050","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Impact of genetic testing in developmental and epileptic encephalopathy\u2013 parents\u2019 perspective","name":"articletitle","label":"Article Title"},{"value":"Epilepsy & Behavior","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.yebeh.2024.110174","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"110174"}}