NIH R01 · 2025
Clinical, Genetic, and Cellular Consequences of Mutations In NA,K-ATPase ATP1A3
The neurological importance of the gene for the neuronal alpha3 subunit of the Na/K pump, ATP1A3, is underscored by the severity and range of symptoms produced by its missense mutations: motor, cognitive, and psychological. This project uses an integrated interdisciplinary approach. It includes phenotyping on patients with input on new phenotypes and mechanistic factors. Because new phenotypes are being discovered incrementally, a gene-first search for variants, phenotypes and risk factors in databases linked to clinical data should accelerate that. Variants need to be validated, so there will be laboratory tests of pathogenicity and mechanism, and FDA-approved drugs will be tested for…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.