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...
Main Authors: | , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2018-11-01
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Series: | Neurobiology of Disease |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996118303504 |