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Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.

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Title: Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.
Authors: Yilmaz S; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey sanem.yilmaz@ege.edu.tr., Avci Durmusalioglu E; Department of Pediatrics, Division of Pediatric Genetics, Ege Üniversitesi Tıp Fakültesi, Izmir, Turkey., Toprak Dogan DE; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey., Kanmaz S; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey., Atik T; Department of Pediatrics, Division of Pediatric Genetics, Ege Üniversitesi Tıp Fakültesi, Izmir, Turkey., Mutlu MB; Detagen Genetic Diseases Evaluation Center, Detagen, Kayseri, Turkey., Yiş U; Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylul Universitesi, Alsancak, Turkey., Yilmaz U; Dr Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Unalp A; Dr Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Gökben S; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey., Baş H; Intergen Genetics and Rare Diseases Diagnosis Research and Application Center, Intergen, Ankara, Turkey., Rostamlou A; Department of Medical Biology, Ege University, Izmir, Turkey., Gunel NS; Department of Medical Biology, Ege University, Izmir, Turkey., Gunduz C; Department of Medical Biology, Ege University, Izmir, Turkey., Tekgul H; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey., Isik E; Department of Pediatrics, Division of Pediatric Genetics, Ege Üniversitesi Tıp Fakültesi, Izmir, Turkey.
Source: Journal of medical genetics [J Med Genet] 2026 Apr 16. Date of Electronic Publication: 2026 Apr 16.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.
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  Data: <searchLink fieldCode="AU" term="%22Yilmaz+S%22">Yilmaz S</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey sanem.yilmaz@ege.edu.tr.<br /><searchLink fieldCode="AU" term="%22Avci+Durmusalioglu+E%22">Avci Durmusalioglu E</searchLink>; Department of Pediatrics, Division of Pediatric Genetics, Ege Üniversitesi Tıp Fakültesi, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Toprak+Dogan+DE%22">Toprak Dogan DE</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Kanmaz+S%22">Kanmaz S</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Atik+T%22">Atik T</searchLink>; Department of Pediatrics, Division of Pediatric Genetics, Ege Üniversitesi Tıp Fakültesi, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Mutlu+MB%22">Mutlu MB</searchLink>; Detagen Genetic Diseases Evaluation Center, Detagen, Kayseri, Turkey.<br /><searchLink fieldCode="AU" term="%22Yiş+U%22">Yiş U</searchLink>; Department of Pediatrics, Division of Child Neurology, School of Medicine, Dokuz Eylul Universitesi, Alsancak, Turkey.<br /><searchLink fieldCode="AU" term="%22Yilmaz+U%22">Yilmaz U</searchLink>; Dr Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Unalp+A%22">Unalp A</searchLink>; Dr Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.<br /><searchLink fieldCode="AU" term="%22Gökben+S%22">Gökben S</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Baş+H%22">Baş H</searchLink>; Intergen Genetics and Rare Diseases Diagnosis Research and Application Center, Intergen, Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Rostamlou+A%22">Rostamlou A</searchLink>; Department of Medical Biology, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Gunel+NS%22">Gunel NS</searchLink>; Department of Medical Biology, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Gunduz+C%22">Gunduz C</searchLink>; Department of Medical Biology, Ege University, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Tekgul+H%22">Tekgul H</searchLink>; Department of Pediatrics, Division of Pediatric Neurology, Ege Universitesi Tip Fakultesi, Izmir, Turkey.<br /><searchLink fieldCode="AU" term="%22Isik+E%22">Isik E</searchLink>; Department of Pediatrics, Division of Pediatric Genetics, Ege Üniversitesi Tıp Fakültesi, Izmir, Turkey.
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        Value: 10.1136/jmg-2026-111485
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      – Code: eng
        Text: English
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      – TitleFull: Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.
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              Text: 2026 Apr 16
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              Y: 2026
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