Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome

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作者： Nevyana Ivanova ^[1] ; Valentina Peycheva ^[2] ; Kunka Kamenarova ^[3] ; Dalia Kancheva ^[4] ; Irina Tsekova ; Iliana Aleksandrova ; Dimitrina Hristova ; Ivan Litvinenko ; Diana Todorova ; Gergana Sarailieva ; Petya Dimova ; Veselin Tomov ; Veneta Bozhinova ; Vanio Mitev ; Radka Kaneva ; Albena Jordanova

作者单位： Children Neurology Unit, Pediatrics Clinic, Tokuda Hospital ^[1] Department of Pediatric Neurology, University Pediatrics Hospital, Medical University – Sofia ^[2] Department of Neurology, Clinic of Child Neurology, University Hospital of Neurology and Psychiatry ^[3] Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University – ^[4]

关键词 GLUT1-DS SLC2A1mutations aCGH analysis

发布时间 2018-12-11

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2018年54卷

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Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome

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Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome

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