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Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.

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第一作者： Thomas,Boulin

第一单位： Institut NeuroMyoGène, Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U1217, Lyon 69008, France.

作者： Thomas,Boulin ^[1] ; Omar,Itani ^[2] ; Sonia,El Mouridi ^[1] ; Alice,Leclercq-Blondel ^[1] ; Marie,Gendrel ^[3] ; Ellen,Macnamara ^[4] ; Ariane,Soldatos ^[4] ; Jennifer L,Murphy ^[4] ; Mark P,Gorman ^[5] ; Anika,Lindsey ^[2] ; Shino,Shimada ^[4] ; Darian,Turner ^[2] ; Gary A,Silverman ^[6] ; Dustin,Baldridge ^[6] ; Undiagnosed Diseases Network ^[4] ; May C,Malicdan ^[7] ; Tim,Schedl ^[8] ; Stephen C,Pak

作者单位： Institut NeuroMyoGène, Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U1217, Lyon 69008, France. ^[1] C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA. ^[2] Institut NeuroMyoGène, Univ Lyon, Université Claude Bernard Lyon 1, CNRS UMR 5310, INSERM U1217, Lyon 69008, France; Institut de Biologie de l'Ecole Normale Supérieure (IBENS), Ecole Normale Supérieure, CNRS, INSERM, Université Paris Sciences et Lettres Research University, Paris 75005, France. ^[3] Undiagnosed Diseases Program Translational Laboratory, NHGRI, National Institutes of Health, Bethesda, MD 20892, USA. ^[4] Department of Neurology, Neuroimmunology Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. ^[5] Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA. ^[6] C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA. ^[7] C. elegans Model Organism Screening Center, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO 63110, USA. Electronic address: stephen.pak@wustl.edu. ^[8]

关键词 C. elegans Epilepsy Neurobeachin Neurodevelopmental delay SEL-2