{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,13]],"date-time":"2025-09-13T16:42:16Z","timestamp":1757781736122,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,2,4]],"date-time":"2019-02-04T00:00:00Z","timestamp":1549238400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004410","name":"T\u00fcrkiye Bilimsel ve Teknolojik Ara\u015ftirma Kurumu","doi-asserted-by":"publisher","award":["106S027"],"award-info":[{"award-number":["106S027"]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005037","name":"Bo\u011fazi\u00e7i \u00dcniversitesi","doi-asserted-by":"publisher","award":["05HB104D","06B107D","08HB104D"],"award-info":[{"award-number":["05HB104D","06B107D","08HB104D"]}],"id":[{"id":"10.13039\/501100005037","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SI236\/8\u20101","SI236\/9\u20101","ER155\/6\u20101"],"award-info":[{"award-number":["SI236\/8\u20101","SI236\/9\u20101","ER155\/6\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Juvenile myoclonic epilepsy (<jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content>) is a common syndrome of genetic generalized epilepsies (<jats:styled-content style=\"fixed-case\">GGE<\/jats:styled-content>s). Linkage and association studies suggest that the gene encoding the bromodomain\u2010containing protein 2 (<jats:italic><jats:styled-content style=\"fixed-case\">BRD<\/jats:styled-content>2<\/jats:italic>) may increase risk of <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content>. The present methylation and association study followed up a recent report highlighting that the <jats:italic><jats:styled-content style=\"fixed-case\">BRD<\/jats:styled-content>2<\/jats:italic> promoter CpG island (CpG76) is differentially hypermethylated in lymphoblastoid cells from Caucasian patients with <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> compared to patients with other <jats:styled-content style=\"fixed-case\">GGE<\/jats:styled-content> subtypes and unaffected relatives. In contrast, we found a uniform low average percentage of methylation (&lt;4.5%) for 13 CpG76\u2010CpGs in whole blood cells from 782 unrelated European Caucasians, including 116 <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> patients, 196 patients with genetic absence epilepsies, and 470 control subjects. We also failed to confirm an allelic association of the <jats:italic><jats:styled-content style=\"fixed-case\">BRD<\/jats:styled-content>2<\/jats:italic> promoter single nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>) rs3918149 with <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> (Armitage trend test, <jats:italic>P<\/jats:italic>\u00a0=\u00a00.98), and we did not detect a substantial impact of SNP rs3918149 on CpG76 methylation in either 116 <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> patients (methylation quantitative trait loci [meQTL], <jats:italic>P<\/jats:italic>\u00a0=\u00a00.29) or 470 German control subjects (me<jats:styled-content style=\"fixed-case\">QTL<\/jats:styled-content>,<jats:italic> P<\/jats:italic>\u00a0=\u00a00.55). Our results do not support the previous observation that a high <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> methylation level of the <jats:italic><jats:styled-content style=\"fixed-case\">BRD<\/jats:styled-content>2<\/jats:italic> promoter CpG76 island is a prevalent epigenetic motif associated with <jats:styled-content style=\"fixed-case\">JME<\/jats:styled-content> in Caucasians.<\/jats:p>","DOI":"10.1111\/epi.14657","type":"journal-article","created":{"date-parts":[[2019,2,5]],"date-time":"2019-02-05T11:11:41Z","timestamp":1549365101000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["No evidence for a <i><scp>BRD<\/scp>2<\/i> promoter hypermethylation in\u00a0blood leukocytes of Europeans with juvenile myoclonic\u00a0epilepsy"],"prefix":"10.1111","volume":"60","author":[{"given":"Herbert","family":"Schulz","sequence":"first","affiliation":[{"name":"Cologne Center for Genomics University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann\u2010Kathrin","family":"Ruppert","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Neuroscience G. Gaslini Institute Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Madia","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Neuroscience G. Gaslini Institute Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Iacomino","sequence":"additional","affiliation":[{"name":"Laboratory of Neurogenetics and Neuroscience G. Gaslini Institute Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"S. Vari","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health University of Genoa, G. Gaslini Institute Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganna","family":"Balagura","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health University of Genoa, G. Gaslini Institute Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlo","family":"Minetti","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health University of Genoa, G. Gaslini Institute Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6065-1476","authenticated-orcid":false,"given":"Pasquale","family":"Striano","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Muscular Diseases Unit Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health University of Genoa, G. Gaslini Institute Genoa Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amedeo","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Division of Neurology, Hospital San Donato Arezzo Arezzo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Marini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children\u2019s Hospital, University of Florence Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renzo","family":"Guerrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology and Neurogenetics Unit and Laboratories A. Meyer Children\u2019s Hospital, University of Florence Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne G.","family":"Weber","sequence":"additional","affiliation":[{"name":"Department of Neurology and Epileptology Hertie Institute of Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Felicitas","family":"Becker","sequence":"additional","affiliation":[{"name":"Department of Neurology and Epileptology Hertie Institute of Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"Department of Neurology University of Ulm Ulm Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holger","family":"Lerche","sequence":"additional","affiliation":[{"name":"Department of Neurology and Epileptology Hertie Institute of Clinical Brain Research University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Kapser","sequence":"additional","affiliation":[{"name":"Department of Neurology Gro\u00dfhadern Hospital, University of Munich Munich Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph J.","family":"Schankin","sequence":"additional","affiliation":[{"name":"Department of Neurology Gro\u00dfhadern Hospital, University of Munich Munich Germany"},{"name":"Department of Neurology Inselspital Bern University Hospital University of Bern Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfram S.","family":"Kunz","sequence":"additional","affiliation":[{"name":"Department of Epileptology Institute of Experimental Epileptology and Cognition Research University of Bonn Medical Center Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rikke S.","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Danish Epilepsy Center Dianalund Denmark"},{"name":"Institute for Regional Health Services University of Southern Denmark Odense Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen L.","family":"Oliver","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susannah T.","family":"Bellows","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saul A.","family":"Mullen","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4580-841X","authenticated-orcid":false,"given":"Samuel F.","family":"Berkovic","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Melbourne Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid E.","family":"Scheffer","sequence":"additional","affiliation":[{"name":"Epilepsy Research Centre Department of Medicine University of Melbourne Melbourne Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne Melbourne Victoria Australia"},{"name":"Florey Institute of Neuroscience and Mental Health Heidelberg Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hande","family":"Caglayan","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics Bo\u011fazi\u00e7i University Istanbul Turkey"},{"name":"Izmir Biomedicine and Genome Center Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ugur","family":"Ozbek","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Acibadem University Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Per","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Department of Genomics, Life and Brain Center Institute of Human Genetics University of Bonn Bonn Germany"},{"name":"Human Genomics Research Group Department of Biomedicine University of Basel Basel Switzerland"},{"name":"Institute of Medical Genetics and Pathology University Hospital of Basel Basel Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Schramm","sequence":"additional","affiliation":[{"name":"Institute of Medical Informatics, Biometry, and Epidemiology University of Duisburg\u2010Essen Essen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Despina","family":"Tsortouktzidis","sequence":"additional","affiliation":[{"name":"Translational Epilepsy Research Department of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert J.","family":"Becker","sequence":"additional","affiliation":[{"name":"Translational Epilepsy Research Department of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Sander","sequence":"additional","affiliation":[{"name":"Cologne Center for Genomics University of Cologne Cologne Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,2,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2012.06.024"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yebeh.2012.06.033"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14042"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302763"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/377006"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.14058"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds373"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2011.03379.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty476"},{"key":"e_1_2_7_11_1","first-page":"e22","article-title":"Comprehensive characterization, annotation and 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