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Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.

Kirshenbaum, G.S. and Dachtler, J. and Roder, J.C. and Clapcote, S.J. (2016) 'Transgenic rescue of phenotypic deficits in a mouse model of alternating hemiplegia of childhood.', Neurogenetics., 17 (1). pp. 57-63.


Missense mutations in ATP1A3 encoding Na+,K+-ATPase α3 are the primary cause of alternating hemiplegia of childhood (AHC). Most ATP1A3 mutations in AHC lie within a cluster in or near transmembrane α-helix TM6, including I810N that is also found in the Myshkin mouse model of AHC. These mutations all substantially reduce Na+,K+-ATPase α3 activity. Herein, we show that Myshkin mice carrying a wild-type Atp1a3 transgene that confers a 16 % increase in brain-specific total Na+,K+-ATPase activity show significant phenotypic improvements compared with non-transgenic Myshkin mice. Interventions to increase the activity of wild-type Na+,K+-ATPase α3 in AHC patients should be investigated further.

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Publisher statement:© The Author(s) 2015 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
Record Created:03 May 2016 12:35
Last Modified:22 Feb 2017 10:06

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