Alternating Hemiplegia of Childhood-Related Neural and Behavioural Phenotypes in Na(+),K(+)-ATPase α3 Missense Mutant Mice

Missense mutations in ATP1A3 encoding Na(+),K(+)-ATPase α3 have been identified as the primary cause of alternating hemiplegia of childhood (AHC), a motor disorder with onset typically before the age of 6 months. Affected children tend to be of short stature and can also have epilepsy, ataxia and le...

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Main Authors: Kirshenbaum, Greer S., Dawson, Neil, Mullins, Jonathan G. L., Johnston, Tom H., Drinkhill, Mark J., Edwards, Ian J., Fox, Susan H., Pratt, Judith A., Brotchie, Jonathan M., Roder, John C., Clapcote, Steven J.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3603922/
https://ncbi.nlm.nih.gov/pubmed/23527305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0060141
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