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2022年12月06日 ;99 (23) 临床/科学报告

体细胞马赛克致病变种梯度跟踪脑组织中发现从Stereo-EEG深度电极

视图ORCID概要Zimeng你们,视图ORCID概要马克·f·班尼特,安德鲁·尼尔,约书亚·a·莱恩,马丁·k·胡恩,Thanomporn Wittayacharoenpong,玛丽安Todaro,希拉·k·帕特尔,视图ORCID概要梅勒妮Bahlo,帕特里克关颖珊,特伦斯·j·奥布莱恩,视图ORCID概要英格丽·e·雅伯,视图ORCID概要塞缪尔·f·Berkovic,视图ORCID概要皮耶罗Perucca,迈克尔·s·希尔德布兰德
第一次出版2022年10月3日, DOI: https://doi.org/10.1212/WNL.0000000000201469
Zimeng你们
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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  • 你们Zimeng ORCID纪录
马克·f·班尼特
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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  • 马克·f·贝内特ORCID纪录
安德鲁·尼尔
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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约书亚·a·莱恩
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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马丁·k·胡恩
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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Thanomporn Wittayacharoenpong
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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玛丽安Todaro
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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希拉·k·帕特尔
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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梅勒妮Bahlo
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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帕特里克关颖珊
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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特伦斯·j·奥布莱恩
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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英格丽·e·雅伯
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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塞缪尔·f·Berkovic
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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皮耶罗Perucca
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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  • 皮耶罗Perucca ORCID纪录
迈克尔·s·希尔德布兰德
的药(奥斯汀健康)(Z.Y.,M.F.B.,S.K.P.,I.E.S.,S.F.B.,最大功率,M.S.H.), University of Melbourne, Heidelberg; Population Health and Immunity Division (M.F.B., M.B.), The Walter and Eliza Hall Institute of Medical Research, Parkville; Department of Medical Biology (M.F.B., M.B.), The University of Melbourne, Parkville; Department of Neurology (A.N., P.K., T.J.O.B., P.P.), Royal Melbourne Hospital, Parkville; Department of Neurology (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), Alfred Hospital, Melbourne; Department of Medicine (A.N., P.K., T.J.O.B.), Royal Melbourne Hospital, University of Melbourne, Parkville; Department of Neurosciences (A.N., J.A.L., T.W., M.T., P.K., T.J.O.B., P.P.), The Central Clinical School, Monash University, Melbourne; Department of Neurology (A.N.), St Vincent's Hospital, Fitzroy; Department of Neurosurgery (M.K.H.), The Alfred Hospital, Melbourne; Florey Institute of Neuroscience and Mental Health (S.K.P., I.E.S.), Heidelberg; Murdoch Children's Research Institute (I.E.S., M.S.H.), Parkville; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Parkville; and Bladin-Berkovic Comprehensive Epilepsy Program (S.F.B., P.P.), Department of Neurology, Austin Health, Heidelberg, Australia.
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引用
体细胞马赛克致病变种梯度跟踪脑组织中发现从Stereo-EEG深度电极
Zimeng叶,Mark F。班尼特,安德鲁尼尔,约书亚。莱恩,马丁·K。胡恩,ThanompornWittayacharoenpong,玛丽安Todaro,希拉·K。帕特尔,媚兰Bahlo,帕特里克关颖珊,特伦斯J。O ' brien,英格丽·E。雅伯,塞缪尔·F。Berkovic,皮耶罗Perucca,迈克尔·S。希尔德布兰德
半岛投注体育官网 2022年12月, 99年 (23) 1036 - 1041; DOI:10.1212 / WNL.0000000000201469

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背景和目标马赛克致病性变异限制大脑越来越被认为是局灶性癫痫的原因。我们旨在确定一个马赛克致病性变异及其在大脑解剖梯度DNA来自跟踪组织外植stereoelectroencephalography (SEEG)电极。

方法我们研究nonlesional灶性癫痫患者与SEEG那些将要动手术进行评价。移植后,电极被分成3池基于他们的大脑位置(右象限,后左后象限,海马/颞皮层)。组织从每个池处理的微量DNA基因组放大之前最高深度外显子组测序。滴数字PCR进行量化镶嵌性。brain-specific胶质原纤维酸性蛋白(GFAP)分析使细胞来源分析。

结果我们演示了一个马赛克梯度小说致病性KCNT1丧失变体(c。530 g > A, p.W177X)预测导致nonsense-mediated衰变。引人注目的是,马赛克梯度相关强烈SEEG发现因为变异等位基因频率最高的是在正确的后象限,反映最致癫痫的脑电图研究地区。GFAP水平升高表示浓缩SEEG脑源性细胞的细胞悬液。

讨论这项研究演示了一个概念验证,马赛克梯度的致病性变异可以使用跟踪建立组织外植SEEG电极。

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  • 去半岛投注体育官网Neurology.org/N为充分披露。资金信息和披露认为作者相关的,如果有的话,年底提供这篇文章。

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