Li, Melody; Jazayeri, Dana; Corry, Ben; McSweeney, K. Melodi; Heinzen, Erin L.; Goldstein, David B.; Petrou, Steven
OBJECTIVE: Mutations in ATP1A3, the gene that encodes the α3 subunit of the Na(+)/K(+) ATPase, are the primary cause of alternating hemiplegia of childhood (AHC). Correlations between different mutations and AHC severity were recently reported, with E815K identified in severe and D801N and G947R in milder cases. This study aims to explore the molecular pathological mechanisms in AHC and to identify functional correlates for mutations associated with different levels of disease severity....[Show more]
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