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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603922/
https://www.ncbi.nlm.nih.gov/pubmed/23527305
http://dx.doi.org/10.1371/journal.pone.0060141

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