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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Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2013
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Research Article
Accesso online: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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