首页> Neurology> Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

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第一作者： Aleksandra,Siekierska

第一单位： From the Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences (A.S., C.S., N.V., P.A.M.d.W.), and Laboratory for the Genetics of Cognition (M.I.), University of Leuven; Center for Human Genetics (M.I., H.V.E.) and Child Neurology (L.L., G.M.B.), University Hospitals Leuven; Department of Biological Sciences (Y.L., M.G.), Hunter College of City University, New York; and Graduate Program in Biology/Neuroscience at City University (Y.L.), New York, NY.

作者： Aleksandra,Siekierska ^[1] ; Mala,Isrie ^[1] ; Yue,Liu ^[1] ; Chloë,Scheldeman ^[1] ; Niels,Vanthillo ^[1] ; Lieven,Lagae ^[1] ; Peter A M,de Witte ^[1] ; Hilde,Van Esch ^[1] ; Mitchell,Goldfarb ^[1] ; Gunnar M,Buyse ^[2]

作者单位： From the Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences (A.S., C.S., N.V., P.A.M.d.W.), and Laboratory for the Genetics of Cognition (M.I.), University of Leuven; Center for Human Genetics (M.I., H.V.E.) and Child Neurology (L.L., G.M.B.), University Hospitals Leuven; Department of Biological Sciences (Y.L., M.G.), Hunter College of City University, New York; and Graduate Program in Biology/Neuroscience at City University (Y.L.), New York, NY. ^[1] From the Laboratory for Molecular Biodiscovery, Department of Pharmaceutical and Pharmacological Sciences (A.S., C.S., N.V., P.A.M.d.W.), and Laboratory for the Genetics of Cognition (M.I.), University of Leuven; Center for Human Genetics (M.I., H.V.E.) and Child Neurology (L.L., G.M.B.), University Hospitals Leuven; Department of Biological Sciences (Y.L., M.G.), Hunter College of City University, New York; and Graduate Program in Biology/Neuroscience at City University (Y.L.), New York, NY. gunnar.buyse@uzleuven.be. ^[2]