Gain-of-function HCN2 variants in genetic epilepsy.

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第一作者： Melody,Li

第一单位： Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia.

作者： Melody,Li ^[1] ; Snezana,Maljevic ^[1] ; A Marie,Phillips ^[1] ; Slave,Petrovski ^[2] ; Michael S,Hildebrand ^[3] ; Rosemary,Burgess ^[3] ; Therese,Mount ^[3] ; Federico,Zara ^[1] ; Pasquale,Striano ^[4] ; Julian,Schubert ^[5] ; Holger,Thiele ^[6] ; Peter,Nürnberg ^[7] ; Michael,Wong ^[7] ; Judith L,Weisenberg ^[8] ; Liu Lin,Thio ^[8] ; Holger,Lerche ^[8] ; Ingrid E,Scheffer ^[6] ; Samuel F,Berkovic ^[3] ; Steven,Petrou ^[3] ; Christopher A,Reid ^[1]

作者单位： Florey Institute of Neuroscience and Mental Health, The University of Melbourne, Parkville, Victoria, Australia. ^[1] School of Biosciences, The University of Melbourne, Parkville, Victoria, Australia. ^[2] Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia. ^[3] Laboratory of Neurogenetics, Department of Neuroscience, Institute "G. Gaslini", Genoa, Italy. ^[4] Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Institute "G. Gaslini", Genoa, Italy. ^[5] University of Tübingen, Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany. ^[6] Cologne Centre for Genomics, University of Cologne, Cologne, Germany. ^[7] Department of Neurology, Washington University School of Medicine and St. Louis Children's Hospital, St Louis, Missouri. ^[8]

关键词 HCN channels febrile seizures spike-and-wave discharges thalamo-cortical networks