{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T09:59:27Z","timestamp":1790675967846,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:00:00Z","timestamp":1780099200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T00:00:00Z","timestamp":1780099200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["460333672\u2013CRC1540"],"award-info":[{"award-number":["460333672\u2013CRC1540"]}],"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":[[2026,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X\u2010linked\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      variants in approximately 50% of individuals. The genetic etiology in individuals without detectable\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      mutations remains undefined, which limits our understanding of its pathomechanism and clinical characterization. The aim is to identify genetic correlates of MOGHE in individuals lacking pathogenic\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      variants and to investigate the clinicopathological and genomic correlations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We investigated archival brain tissue of 29 individuals (19 males, 10 females) with histopathologically confirmed MOGHE. Twenty individuals carried\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      variants, and nine individuals lacked detectable mutations in\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      or other epilepsy\u2010related genes. Brain tissue samples were analyzed using DNA methylation\u2010derived copy number variation (CNV) analysis, polymerase chain reaction (PCR), and chromogenic\/fluorescent in\u00a0situ hybridization (ISH).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      CNV analysis identified Y\u2010chromosomal material in five of 10 females (50%) and mosaic Y\u2010chromosome gains in 16 of 19 males (84%), confirmed by PCR and ISH, and associated with lesional tissue. Exploratory stratification of the cohort by\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      status and Y\u2010chromosome gain revealed a tendency toward earlier seizure onset, multilobar involvement, and cognitive impairment in patients carrying both\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      mutations and Y\u2010chromosome gain; however, these differences did not reach statistical significance in our small cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>\n                      The combined presence of Y\u2010chromosomal material in females, mosaic Y\u2010chromosome gains in males, and\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      variants represents a recurrent genomic feature in patients with MOGHE. These findings suggest that sex\u2010chromosome anomalies may contribute to the pathobiology of this epilepsy\u2010associated cortical malformation, highlighting the need to clarify the underlying molecular mechanisms of this clinicohistopathologic entity. Although the root cause, biological consequence, and clinical significance of brain somatic Y\u2010chromosomal gain remain to be further clarified, our findings identify a previously unrecognized genomic feature of MOGHE and provide a rationale for future research in MOGHE cohorts.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epi.70317","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T14:35:51Z","timestamp":1780151751000},"page":"4907-4921","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["High incidence of Y\u2010chromosome mosaicism in male and female individuals with mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy"],"prefix":"10.1002","volume":"67","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-5038-7904","authenticated-orcid":false,"given":"Erica","family":"Cecchini","sequence":"first","affiliation":[{"name":"Department of Neuropathology University Hospital Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg, and partner of the European Reference Network EpiCARE  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0854-5537","authenticated-orcid":false,"given":"Till","family":"Hartlieb","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurology, Neurorehabilitation, and Epileptology Schoen\u2010Clinic  Vogtareuth Germany"},{"name":"Research Program for Rehabilitation, Transition, and Palliation Paracelsus Medical University  Salzburg 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Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg, and partner of the European Reference Network EpiCARE  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9260-0830","authenticated-orcid":false,"given":"Paraskevi","family":"Chasani","sequence":"additional","affiliation":[{"name":"Department of Neuropathology University Hospital Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg, and partner of the European Reference Network EpiCARE  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1993-1134","authenticated-orcid":false,"given":"Georgia","family":"Vasileiou","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"},{"name":"Department of Human Genetics Hannover Medical School  Hannover Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiebke","family":"Hofer","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurology, Neurorehabilitation, and Epileptology Schoen\u2010Clinic  Vogtareuth Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9994-0016","authenticated-orcid":false,"given":"Lea M.","family":"Reisch","sequence":"additional","affiliation":[{"name":"Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School Ostwestfalen\u2010Lippe (OWL) Bielefeld University  Bielefeld Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0876-0146","authenticated-orcid":false,"given":"Manfred","family":"Kudernatsch","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurology, Neurorehabilitation, and Epileptology Schoen\u2010Clinic  Vogtareuth Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2225-8654","authenticated-orcid":false,"given":"Christian G.","family":"Bien","sequence":"additional","affiliation":[{"name":"Department of Epileptology, Krankenhaus Mara, Bethel Epilepsy Center, Medical School Ostwestfalen\u2010Lippe (OWL) Bielefeld University  Bielefeld Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8617-0913","authenticated-orcid":false,"given":"Roland","family":"Coras","sequence":"additional","affiliation":[{"name":"Department of Neuropathology University Hospital Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg, and partner of the European Reference Network EpiCARE  Erlangen 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