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Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

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第一作者： Natalia,Babkina

第一单位： Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: babkina.n@gmail.com.

作者： Natalia,Babkina ^[1] ; Joshua L,Deignan ^[2] ; Hane,Lee ^[2] ; Eric,Vilain ^[3] ; Raman,Sankar ^[4] ; Irina,Giurgea ^[5] ; David,Mowat ^[6] ; John M,Graham ^[7]

作者单位： Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. Electronic address: babkina.n@gmail.com. ^[1] Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. ^[2] Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. ^[3] Department of Neurology, Pediatrics and Children's Discovery and Innovation Institute at Mattel Children's Hospital, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA. ^[4] Service de Biochimie Génétique, INSERM U955 Equipe 11, Hôpital Henri Mondor, 94000 Créteil, France. ^[5] Department of Medical Genetics, Sydney Children's Hospital, School of Women's and Children's Health, University of New South Wales, Australia. ^[6] Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pediatrics, Division of Medical Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA; Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, CA 90502, USA. ^[7]

关键词 Burst-suppression EEG pattern Clinical exome sequencing Cortical gray and white matter atrophy Developmental delay Infantile Epileptic Encephalopathy (EIEE)Infantile spasms Mowat–Wilson syndrome (MWS)Seizures ZEB2