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Filtering by: Creator Srour, Meredith Study Program Human Genetics and Genomics Study Program (HGSP)

1. Investigating the Relationship Between Heart Rate, QT, and QTc in Alternating Hemiplegia of Childhood and Other ATP1A3-Associated Phenotypes

Description/Abstract:: Background: Alternating hemiplegia of childhood (AHC) is a rare condition most frequently caused by mutations in ATP1A3, encoding for the alpha-3 subunit of Na+/K+-ATPase, and D801N is the most common variant. Individuals with ATP1A3-D801N have shorter...
Date:: August 1-2, 2024