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Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.

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作者单位: School of Health and Wellbeing, University of Glasgow, Glasgow, UK. [1] Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK. [2] Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago, Chile. [3] Cologne Center for Genomics, University of Cologne, Cologne, Germany. [4] Department of Genetics, University Medical Center, Utrecht, the Netherlands. [5] Department of Child Neurology, University Hospital Antwerp, Antwerp, Belgium. [6] Reference Center for Rare Epilepsies, Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, Université de Paris, Paris, France. [7] Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany. [8] Neuroscience Department, Children's Hospital A. Meyer Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) and University of Florence, Florence, Italy. [9] Danish Epilepsy Center, Filadelfia, Dianalund, Denmark. [10] Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark. [11] Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Melbourne, Victoria, Australia. [12] University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Victoria, Australia. [13] Applied & Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium. [14] Neurology Department, University Hospital Antwerp, Antwerp, Belgium. [15] Translational Neurosciences, University of Antwerp, Antwerp, Belgium. [16] Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, Ohio, USA. [17] Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [18] Department of Neurology, McGovern Medical School, UTHealth Houston, Houston, Texas, USA. [19]
DOI 10.1111/epi.17882
PMID 38410936
发布时间 2024-04-16
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