{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T10:19:33Z","timestamp":1787998773930,"version":"build-2784847793"},"reference-count":27,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T00:00:00Z","timestamp":1779235200000},"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"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing. A curated epilepsy gene panel comprising 765 Online Mendelian Inheritance in Man (OMIM)\u2010listed epilepsy\u2010associated genes was applied. Variants were classified according to American College of Medical Genetics and Genomics guidelines and assessed for clinical relevance and association with postsurgical outcomes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pathogenic or likely pathogenic variants in\n                      <jats:italic>DEPDC5<\/jats:italic>\n                      ,\n                      <jats:italic>NPRL2<\/jats:italic>\n                      ,\n                      <jats:italic>KCNT2<\/jats:italic>\n                      , and\n                      <jats:italic>PRRT2<\/jats:italic>\n                      were identified, respectively, in 4 individuals (3.5%, 4\/115). All variants met stringent quality criteria with high pathogenicity scores (Combined Annotation Dependent Depletion (CADD) 34\u201337) and absent or extremely low population frequencies in gnomAD v4.1. None of these patients had intellectual disability, and only one patient (\n                      <jats:italic>PRRT2<\/jats:italic>\n                      ) had a positive family history. The patient with the\n                      <jats:italic>KCNT2<\/jats:italic>\n                      variant underwent epilepsy surgery with good outcome (Engel class ID).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>This presurgical cohort demonstrates a low diagnostic yield of genetic testing in adult epilepsy surgery candidates. However, three of four patients with (likely) pathogenic variants did not have features that would have prompted clinical genetic testing, indicating that their genetic diagnosis would have been missed based on typical clinical genetic testing criteria in many jurisdictions.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi.70291","type":"journal-article","created":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T07:36:07Z","timestamp":1779262567000},"page":"4245-4254","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-9732-3205","authenticated-orcid":false,"given":"Clara","family":"J\u00fcnemann","sequence":"first","affiliation":[{"name":"Epilepsy Center Hessen Philipps\u2010University  Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-9848-2613","authenticated-orcid":false,"given":"Amanda","family":"Stuart","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"},{"name":"Alberta Children's Hospital Research Institute University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1033-0955","authenticated-orcid":false,"given":"Navprabhjot","family":"Kaur","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1061-9099","authenticated-orcid":false,"given":"Samuel","family":"Wiebe","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"},{"name":"Hotchkiss Brain Institute University of Calgary  Calgary Alberta Canada"},{"name":"Department of Community Health Sciences University of Calgary  Calgary Alberta Canada"},{"name":"O'Brien Institute for Public Health University of Calgary  Calgary Alberta Canada"},{"name":"Clinical Research Unit, Cumming School of Medicine University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1351-5866","authenticated-orcid":false,"given":"Nathalie","family":"Jette","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"},{"name":"O'Brien Institute for Public Health University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaily","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7897-4700","authenticated-orcid":false,"given":"Felippe","family":"Borlot","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6298-0513","authenticated-orcid":false,"given":"Susanne","family":"Knake","sequence":"additional","affiliation":[{"name":"Epilepsy Center Hessen Philipps\u2010University  Marburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"The Calgary Comprehensive Epilepsy Program Collaborators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9533-7217","authenticated-orcid":false,"given":"Ping Yee","family":"Billie 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