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Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.

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作者单位: PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Biocenter Oulu, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland. Electronic address: jonna.komulainen-ebrahim@oulu.fi. [1] Epilepsy and Clinical Neurophysiology, Children's National Health System, Washington, DC, USA. [2] PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Biocenter Oulu, University of Oulu, Oulu, Finland. [3] Biocenter Oulu, University of Oulu, Oulu, Finland; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, University of Oulu, Oulu, Finland. [4] Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Department of Diagnostic Radiology, Oulu University Hospital, Oulu, Finland; Research Unit of Medical Imaging, Physics and Technology, Faculty of Medicine, University of Oulu, Oulu, Finland. [5] PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland. [6] PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Department of Ophthalmology, Oulu University Hospital, Oulu, Finland. [7] PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Nano and Molecular Systems Research Unit, University of Oulu, Oulu, Finland. [8] Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland. [9] Department of Clinical Chemistry, University of Oulu, Oulu, Finland; Nordlab Oulu, Oulu University Hospital, Oulu, Finland. [10] PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland. [11] PEDEGO Research Unit, University of Oulu, Oulu, Finland; Medical Research Center, Oulu University Hospital, University of Oulu, Oulu, Finland; Biocenter Oulu, University of Oulu, Oulu, Finland; Department of Children and Adolescents, Division of Pediatric Neurology, Oulu University Hospital, Oulu, Finland. [12]
DOI 10.1016/j.seizure.2019.03.010
PMID 31004928
发布时间 2020-01-02
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Seizure

2019年69卷

99-104页

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