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Functional Effects of Epilepsy Associated <i>KCNT1</i> Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity.

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第一作者： Grigori Y,Rychkov

第一单位： Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.;School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia.;South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia.

作者： Grigori Y,Rychkov ^[1] ; Zeeshan,Shaukat ^[2] ; Chiao Xin,Lim ^[2] ; Rashid,Hussain ^[2] ; Ben J,Roberts ^[3] ; Claudia M,Bonardi ^[4] ; Guido,Rubboli ^[5] ; Brandon F,Meaney ^[6] ; Robyn,Whitney ^[6] ; Rikke S,Møller ^[7] ; Michael G,Ricos ^[2] ; Leanne M,Dibbens ^[2]

作者单位： Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia.;School of Biomedicine, University of Adelaide, Adelaide, SA 5005, Australia.;South Australian Health and Medical Research Institute, Adelaide, SA 5005, Australia. ^[1] Clinical and Health Sciences, Australian Centre for Precision Health, University of South Australia, Adelaide, SA 5000, Australia. ^[2] Clinical and Health Sciences, Health and Biomedical Innovation, University of South Australia, Adelaide, SA 5000, Australia. ^[3] Department of Woman's and Child's Health, Padua University Hospital, 35128 Padua, Italy.;The Danish Epilepsy Centre, 4293 Dianalund, Denmark. ^[4] Denmark Department of Clinical Medicine, Copenhagen University Hospital, 2200 Copenhagen, Denmark. ^[5] Division of Neurology, Department of Paediatrics, McMaster University, Hamilton, ON 8SL 4L8, Canada. ^[6] Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE, The Danish Epilepsy Centre, 4293 Dianalund, Denmark.;Department of Regional Health Research, University of Southern Denmark, 5000 Odense, Denmark. ^[7]

关键词 K+ channels channelopathies epilepsy gain-of-function mutations patch clamping

主题词人类(Humans);HEK293细胞(HEK293 Cells);神经组织蛋白质类(Nerve Tissue Proteins);癫痫(Epilepsy);突变(Mutation);钾(Potassium)

DOI 10.3390/ijms232315133

PMID 36499459

发布时间 2022-12-22

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