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A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep.
Sager, Safiye Gunes; Turkyilmaz, Ayberk; Gunbey, Hediye Pinar; Karatoprak, Elif Yuksel; Aslan, Elif Sibel; Akin, Yasemin.
Affiliation
  • Sager SG; Department of Pediatric Neurology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey. Electronic address: sgunessenturk@gmail.com.
  • Turkyilmaz A; Department of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
  • Gunbey HP; Department of Radiology, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey.
  • Karatoprak EY; Department of Pediatric Neurology, Faculty of Medicine, Istanbul Medeniyet University, Istanbul, Turkey.
  • Aslan ES; Department of Molecular Biology and Genetics, Biruni University, Istanbul, Turkey.
  • Akin Y; Department of Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkey.
Brain Dev ; 45(2): 140-145, 2023 Feb.
Article in En | MEDLINE | ID: mdl-36192301
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Status Epilepticus / Dioxygenases / Sleep, Slow-Wave Limits: Child / Humans / Infant / Male Language: En Journal: Brain Dev Year: 2023 Document type: Article Country of publication: Netherlands
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Status Epilepticus / Dioxygenases / Sleep, Slow-Wave Limits: Child / Humans / Infant / Male Language: En Journal: Brain Dev Year: 2023 Document type: Article Country of publication: Netherlands