{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T04:39:00Z","timestamp":1792471140098,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Genetic testing plays an increasing role in the diagnostic pathway for rare and complex epilepsies. However, significant heterogeneity persists in access, implementation, and interpretation across Europe. This study aimed to assess genetic testing practices, accessibility, and challenges across expert epilepsy centers within the European Reference Network for Rare and Complex Epilepsies (ERN EpiCARE) and to identify key challenges and areas for harmonization.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A cross\u2010sectional survey was developed by the ERN EpiCARE Clinical Genetics Working Group and distributed to 50 EpiCARE member centers across 27 European countries. The questionnaire collected quantitative and qualitative information on available genetic testing modalities, turnaround times, use of rapid testing, multidisciplinary team (MDT) organization, genetic counseling practices, and perceived challenges. Survey findings were complemented by a structured discussion held during the ERN EpiCARE General Assembly.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Responses were received from 46 centers (51 responses). Most centers reported access to genetic testing, predominantly through in\u2010house facilities. Whole\u2010exome sequencing was available in 85% of centers, and gene panels were available in 78%. Whole\u2010genome sequencing was available in 59% of centers, frequently restricted to research or performed externally. Turnaround times for standard genetic testing were most commonly between 1 and 6\u2009months. Genetic testing strategies varied by epilepsy subtype, with gene panels most frequently used as first\u2010tier testing, and exome sequencing preferentially applied in developmental and epileptic encephalopathies. Considerable heterogeneity was observed in MDT organization, access to genetic counseling, reimbursement, data\u2010sharing and registry infrastructures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>Although genetic testing is widely available across ERN EpiCARE centers, substantial disparities persist in its organization, accessibility, and implementation. Addressing these gaps through strengthened multidisciplinary collaboration, harmonized diagnostic strategies, and enhanced European\u2010level coordination will be essential to ensure equitable access to high\u2010quality genetic care for individuals with epilepsy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Plain Language Summary<\/jats:title>\n                    <jats:p>Genetic testing is increasingly integrated in the diagnostic pathway for rare and complex epilepsies and treatment decisions. An ERN EpiCARE survey assessed how genetic testing is implemented across specialist epilepsy centers in Europe and identified persistent organizational, financial, and clinical barriers. Although most centers had access to advanced genomic testing, important differences were identified in access, reimbursement, turnaround times, and multidisciplinary expertise. European collaboration and harmonized practices are needed to support equitable access to high\u2010quality genetic care for people living with epilepsy.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi4.70304","type":"journal-article","created":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:25:34Z","timestamp":1788355534000},"page":"1556-1569","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic testing practices across European epilepsy centers: An\n                    <scp>ERN EpiCARE<\/scp>\n                    survey"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-1939-6828","authenticated-orcid":false,"given":"S\u00e9bile","family":"Tchaicha","sequence":"first","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u, European Reference Network for Rare and Complex Epilepsies, ERN EpiCARE Coordination Team  Barcelona Spain"},{"name":"European Consortium for Epilepsy Trials, ECET Ltd.  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Van Hulle","sequence":"additional","affiliation":[{"name":"University Hospitals Leuven Belgium, ERN EpiCARE Registry  Leuven Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Brilstra","sequence":"additional","affiliation":[{"name":"University Medical Center Utrecht, Member of ERN EpiCARE  Utrecht Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7728-6903","authenticated-orcid":false,"given":"Andreas","family":"Brunklaus","sequence":"additional","affiliation":[{"name":"Paediatric Neurosciences Unit, Royal Hospital for Children, SP of the ERN EpiCARE, School of Health and Wellbeing University of Glasgow  Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1343-8434","authenticated-orcid":false,"given":"Gaetano","family":"Cantalupo","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit and Center for Research on Epilepsies in Pediatric Age (CREP) University\u2010Hospital of Verona (Full Member of the ERN EpiCARE)  Verona Italy"},{"name":"Department of Engineering for Innovation Medicine, Innovation Biomedicine Section University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7858-323X","authenticated-orcid":false,"given":"Martin","family":"Geroldinger","sequence":"additional","affiliation":[{"name":"Research Program Biomedical Data Science Paracelsus Medical University  Salzburg Austria"},{"name":"Department of Neurology, Christian Doppler Medical Centre, Full Member of European Reference Network on Rare and Complex Epilepsies EpiCARE Paracelsus Medical University  Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0334-2909","authenticated-orcid":false,"given":"Amy","family":"McTague","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences UCL Great Ormond Street Institute of Child Health, SP of the ERN EpiCARE  London UK"},{"name":"UCL NIHR BRC Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, SP of the ERN EpiCARE  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2935-5131","authenticated-orcid":false,"given":"Reetta","family":"K\u00e4lvi\u00e4inen","sequence":"additional","affiliation":[{"name":"Kuopio Epilepsy Center, Kuopio University Hospital, Member of EpiCARE ERN and Faculty of Health Sciences University of Eastern Finland  Kuopio Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6171-0282","authenticated-orcid":false,"given":"Eulalia","family":"Tur\u00f3n\u2010Vi\u00f1as","sequence":"additional","affiliation":[{"name":"Epilepsy Unit Hospital del Mar, Member of ERN EpiCARE  Barcelona Spain"},{"name":"Hospital de la Santa Creu i Sant Pau  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7233-2771","authenticated-orcid":false,"given":"Alexis","family":"Arzimanoglou","sequence":"additional","affiliation":[{"name":"Hospital Sant Joan de D\u00e9u, European Reference Network for Rare and Complex Epilepsies, ERN EpiCARE Coordination Team  Barcelona Spain"},{"name":"Epilepsy Unit, Pediatric Neurology Department, Member of the ERN EpiCARE, Hospital Sant Joan de D\u00e9u Universitat de Barcelona  Barcelona Spain"}],"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 Epilepsy Genetics and Personalized Medicine Danish Epilepsy Center, Member of the ERN EpiCARE  Dianalund Denmark"},{"name":"Department of Regional Health Research, Faculty of Health Sciences University of Southern  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5877-4074","authenticated-orcid":false,"given":"Rima","family":"Nabbout","sequence":"additional","affiliation":[{"name":"H\u00f4pital Necker\u2010Enfants Malades, APHP Member of ERN EpiCARE  Paris France"},{"name":"Inserm U1163, Institut Imagine  Paris France"},{"name":"Universit\u00e9 Paris cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,2]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003509"},{"key":"e_1_2_13_3_1","unstructured":"World Health Organization.Seventy\u2010Third World Health 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Registry project.EpiCARE [Internet].2026.https:\/\/epi\u2010care.eu\/epicares\u2010activities\/registry\u2010project\/"},{"key":"e_1_2_13_15_1","unstructured":"Collaborative Genetic Research.EpiCARE [Internet].2026.https:\/\/epi\u2010care.eu\/collaborative\u2010genetic\u2010research\/"}],"container-title":["Epilepsia 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