{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T11:04:33Z","timestamp":1793703873201,"version":"4.5.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,11,15]],"date-time":"2019-11-15T00:00:00Z","timestamp":1573776000000},"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":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Genetic causes are increasingly identified in patients with focal epilepsy. These genetic causes may be related to the effectiveness of epilepsy surgery. We aimed to assess the use and yield of genetic testing in a large cohort of patients who were evaluated for epilepsy surgery.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We performed a retrospective single\u2010center consecutive cohort study of patients who were evaluated for surgery between 1990 and 2016. Within this cohort, we assessed the use of genetic testing\u2014either before or after presurgical decision\u2010making. We evaluated genetic results as well as the outcome of presurgical decision\u2010making and surgery, and compared these end points for different subgroups\u2014especially MRI\u2010positive <jats:italic>vs<\/jats:italic> MRI\u2010negative patients. Patients with tuberous sclerosis (TSC) and <jats:italic>KRIT1<\/jats:italic> mutations were excluded from analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Of the 2385 epilepsy patients who were evaluated for surgery, 1280 (54%) received surgical treatment in our center. Of the entire cohort, 325 (14%) underwent genetic testing, comprising 156 of 450 MRI\u2010negative patients (35%) vs 169 of 1935 MRI\u2010positive patients (9%). A genetic cause of epilepsy was found in 40 of the 325 patients (12%, 2% of the entire cohort), mainly consisting of mutations in ion channel function and synaptic transmission genes, and mTOR pathway gene mutations. Three of the seven patients with mTOR pathway gene mutations underwent surgery; two achieved complete seizure freedom. One of the 17 patients with germline mutations in ion channel function and synaptic transmission genes received resective surgery but was not rendered seizure\u2010free; two other patients underwent invasive intracranial EEG\u2010monitoring before being rejected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Significance<\/jats:title><jats:p>This study shows that genetic testing is increasingly applied in focal epilepsy patients who are considered for epilepsy surgery. The diagnostic yield of genetic testing is highest in next generation sequencing techniques, and the outcome of genetic testing assists selecting eligible patients for invasive intracranial monitoring and resective surgery.<\/jats:p><\/jats:sec>","DOI":"10.1002\/epi4.12366","type":"journal-article","created":{"date-parts":[[2019,10,17]],"date-time":"2019-10-17T22:53:58Z","timestamp":1571352838000},"page":"609-617","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":66,"title":["Implications of genetic diagnostics in epilepsy surgery candidates: A single\u2010center cohort study"],"prefix":"10.1002","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0592-1098","authenticated-orcid":false,"given":"Maurits W. C. B.","family":"Sanders","sequence":"first","affiliation":[{"name":"Department of Child Neurology Brain Center Rudolf Magnus University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia M. C.","family":"Lemmens","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Brain Center Rudolf Magnus University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Floor E.","family":"Jansen","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Brain Center Rudolf Magnus University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva H.","family":"Brilstra","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bobby P. C.","family":"Koeleman","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kees P. J.","family":"Braun","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Brain Center Rudolf Magnus University Medical Center Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Dutch Collaborative Epilepsy Surgery Program (LWEC)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003509"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10143-016-0725-8"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200002033420503"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2009.02397.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2016.06.010"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2016.0825"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/neuroindia.NI_1033_16"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000448530"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101448"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2017.05.014"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000118"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/14737175.2017.1253476"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2018.0959"},{"key":"e_1_2_7_15_1","first-page":"20","article-title":"Surgical treatment of epilepsy in Sturge\u2010Weber syndrome in children","volume":"106","author":"Bourgeois M","year":"2007","journal-title":"J Neurosurg"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2013.02.016"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_18_1","first-page":"609","volume-title":"Surgical treatment of the epilepsies","author":"Engel J","year":"1993"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eplepsyres.2010.02.007"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa052773"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70156-5"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.12544"}],"container-title":["Epilepsia Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fepi4.12366","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12366","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/epi4.12366","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/epi4.12366","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T09:55:44Z","timestamp":1694253344000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/epi4.12366"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,15]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["10.1002\/epi4.12366"],"URL":"https:\/\/doi.org\/10.1002\/epi4.12366","archive":["Portico"],"relation":{},"ISSN":["2470-9239","2470-9239"],"issn-type":[{"value":"2470-9239","type":"print"},{"value":"2470-9239","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,15]]},"assertion":[{"value":"2019-01-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}