Novel E815K knock-in mouse model of alternating hemiplegia of childhood

De novo mutations causing dysfunction of the ATP1A3 gene, which encodes the α3 subunit of Na+/K+-ATPase pump expressed in neurons, result in alternating hemiplegia of childhood (AHC). AHC manifests as paroxysmal episodes of hemiplegia, dystonia, behavioral abnormalities, and seizures. The first aim...

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Main Authors: Ashley R. Helseth, Arsen S. Hunanyan, Syed Adil, Molly Linabarger, Monisha Sachdev, Elie Abdelnour, Eric Arehart, Marlee Szabo, Jordan Richardson, William C. Wetsel, Ute Hochgeschwender, Mohamad A. Mikati
Format: Article
Language:English
Published: Elsevier 2018-11-01
Series:Neurobiology of Disease
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Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118303504