The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals.

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作者： Pia,Zacher ^[1] ; Thomas,Mayer ^[2] ; Frank,Brandhoff ^[3] ; Tobias,Bartolomaeus ^[3] ; Diana,Le Duc ^[4] ; Martin,Finzel ^[5] ; Anja,Heinze ^[4] ; Susanne,Horn ^[3] ; Chiara,Klöckner ^[4] ; Gudrun,Körber ^[4] ; Julia,Hentschel ^[4] ; Malgorzata,Kalita ^[3] ; Ilona,Krey ^[4] ; Marina,Nastainczyk-Wulf ^[3] ; Konrad,Platzer ^[4] ; Johannes,Rebstock ^[4] ; Bernt,Popp ^[6] ; Mathias,Stiller ^[4] ; Anne-Christin,Teichmann ^[3] ; Rami Abou,Jamra ^[4] ; Johannes R,Lemke ^[4]

作者单位： Epilepsy Center Kleinwachau, Radeberg, Germany. p.zacher@kleinwachau.de. ^[1] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. p.zacher@kleinwachau.de. ^[2] Epilepsy Center Kleinwachau, Radeberg, Germany. ^[3] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. ^[4] Praxis for Human Genetics, Tübingen, Germany. ^[5] Institute of Forensic Medicine, University Hospital Halle, Halle (Saale), Germany. ^[6] Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Johannes.Lemke@medizin.uni-leipzig.de. ^[7] Center for Rare Disearses, University of Leipzig Medical Center, Leipzig, Germany. Johannes.Lemke@medizin.uni-leipzig.de. ^[8]

主题词成年人(Adult);老年人(Aged);癫痫(Epilepsy);脆性X智力低下蛋白质(Fragile X Mental Retardation Protein);人类(Humans);核型分析(Karyotyping)

DOI 10.1038/s41436-021-01153-6

PMID 33911214

发布时间 2022-12-07

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