Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

导出 LinkOut

翻译打印收藏纠错

作者： Zimeng,Ye ^[1] ; Lara,McQuillan ^[1] ; Annapurna,Poduri ^[2] ; Timothy E,Green ^[1] ; Naomichi,Matsumoto ^[3] ; Heather C,Mefford ^[4] ; Ingrid E,Scheffer ^[5] ; Samuel F,Berkovic ^[1] ; Michael S,Hildebrand ^[6]

作者单位： Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia. ^[1] Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, and Department of Neurology, Harvard Medical School, Boston, MA, United States. ^[2] Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. ^[3] Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, United States. ^[4] Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia; Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. ^[5] Department of Medicine (Austin Hospital), University of Melbourne, Heidelberg, Victoria, Australia; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. Electronic address: michael.hildebrand@unimelb.edu.au. ^[6]

关键词 Brain malformations Deep sequencing Lesional epilepsies Somatic mosaicism

主题词脑(Brain);癫痫, 部分性(Epilepsies, Partial);人类(Humans);皮质发育畸形(Malformations of Cortical Development);镶嵌现象(Mosaicism);突变(Mutation)

DOI 10.1016/j.eplepsyres.2019.106161

PMID 31295639

发布时间 2020-09-18

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交