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A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood.
Yildiz, Edibe Pembegul; Yesil, Gozde; Ozkan, Melis Ulak; Bektas, Gonca; Caliskan, Mine; Ozmen, Meral.
Afiliación
  • Yildiz EP; Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: edibepembegul@hotmail.com.
  • Yesil G; Department of Medical Genetics, Bezmialem Vakif University of Medicine, Istanbul, Turkey. Electronic address: gozdeyesil@msn.com.
  • Ozkan MU; Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: drmelis.ulakozkan@gmail.com.
  • Bektas G; Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: goncabektas@gmail.com.
  • Caliskan M; Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: minecal@istanbul.edu.tr.
  • Ozmen M; Division of Pediatric Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul, Turkey. Electronic address: mozmen@istanbul.edu.tr.
Seizure ; 51: 77-79, 2017 Oct.
Article en En | MEDLINE | ID: mdl-28818698
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Parkinsonianos / Enfermedad de Lafora / Proteínas Tirosina Fosfatasas no Receptoras / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Seizure Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Parkinsonianos / Enfermedad de Lafora / Proteínas Tirosina Fosfatasas no Receptoras / Mutación Tipo de estudio: Diagnostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Seizure Asunto de la revista: NEUROLOGIA Año: 2017 Tipo del documento: Article Pais de publicación: Reino Unido