Article
Alternating hemiplegia of childhood-related neural and behavioural phenotypes in Na+,K+-ATPase α3 missense mutant mice.
PloS one - 1 Jan 2013
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
Abstract excerpt
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 learning disability. The Na(+),K(+)-ATPase has a well-known role in maintaining electrochemical gradients across cell...
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