Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

Mutations in ATP1A3 encoding the catalytic subunit of the Na/K-ATPase expressed in mammalian neurons cause alternating hemiplegia of childhood (AHC) as well as an expanding spectrum of other neurodevelopmental syndromes and neurological phenotypes. Most AHC cases are explained by de novo heterozygou...

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Bibliographic Details
Main Authors: Christine Q. Simmons, Christopher H. Thompson, Bryan E. Cawthon, Grant Westlake, Kathryn J. Swoboda, Evangelos Kiskinis, Kevin C. Ess, Alfred L. George, Jr
Format: Article
Language:English
Published: Elsevier 2018-07-01
Series:Neurobiology of Disease
Subjects:
ATP1A3
Alternating hemiplegia of childhood
Induced pluripotent stem cells
Ion transporter
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996118300779

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http://www.sciencedirect.com/science/article/pii/S0969996118300779

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