{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:34:41Z","timestamp":1787510081824,"version":"build-2736575974"},"reference-count":39,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T00:00:00Z","timestamp":1719878400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2024,10]]},"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 and epilepsy (MOGHE) is a recently described, histopathologically and molecularly defined (\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      \u2010mutated) type of cortical malformation. Although increasingly recognized, the diagnosis of MOGHE remains a challenge. We present the characteristics of the first six patients diagnosed in Bulgaria, with the aim to facilitate identification, proper presurgical evaluation, and surgical treatment approach in this disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Revision of histopathological specimens of 202 patients operated on for drug\u2010resistant focal epilepsy identified four cases with MOGHE. Another two were suggested, based on clinical characteristics and subsequently, were histologically confirmed. Sanger\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      sequencing on paraffin\u2010embedded or fresh\u2010frozen brain tissue was performed. Analysis of seizure types, neuropsychological profiles, electroencephalographic (EEG), imaging features and epilepsy surgery outcomes was done.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three out of the six cases (50%) harbored pathogenic\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      mutations. One patient had a heterozygous somatic variant with uncertain significance. Clinical characteristics included epilepsy onset in infancy (in 100% under 3\u2009years of age), multiple seizure types, and moderate or severe intellectual\/developmental delay. Epileptic spasms with hypsarrhythmia on EEG were the initial seizure type in five patients. The subsequent seizure types resembled those in Lennox\u2013Gastaut syndrome. The majority of the patients (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20094) presented prominent and persisting autistic features. Magnetic resonance imaging (MRI) showed multilobar (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20096) and bilateral (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20093) lesions, affecting the frontal lobes (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20095; bilaterally in three) and characterized by increased signal on T2\/fluid\u2010attenuated inversion recovery (FLAIR). Voxel\u2010based morphometric MRI post\u2010processing and positron emission tomography helped determining the localization and extent of the lesions and presumed epileptogenic zones. After surgery, four patients (66.7%) were seizure\u2010free \u22652\u2009years. Interestingly, all seizure\u2010free patients carried somatic\n                      <jats:italic>SLC35A2<\/jats:italic>\n                      \u2010alterations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance<\/jats:title>\n                    <jats:p>Epileptic spasms, early prominent neuropsychological disturbances, MRI\u2010T2\/FLAIR hyperintense lesions with cortico\u2010subcortical blurring, frequently multilobar and especially frontal, can preoperatively help to suspect MOGHE. Epilepsy surgery is still the only successful treatment option in MOGHE.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/epd2.20261","type":"journal-article","created":{"date-parts":[[2024,7,2]],"date-time":"2024-07-02T11:57:29Z","timestamp":1719921449000},"page":"662-675","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical characteristics and multimodal imaging can help diagnosing and treating mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy"],"prefix":"10.1002","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4443-5140","authenticated-orcid":false,"given":"Petia S.","family":"Dimova","sequence":"first","affiliation":[{"name":"Epilepsy Surgery Center, Neurosurgery Department St. Ivan Rilski University Hospital  Sofia 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