Analysis of pathogenic variants in the Na+/K+ ATPase gene family : ATP1A1, ATP1A2 and ATP1A3

Takeaway

  • Pathogenic variants differed between the genes despite the presence of high sequence identity, and a genotype-structure-phenotype relationship in ATP1A3 was found to correlate with neurologic outcomes.

Why this matters ?

  • These results provide a basis for understanding the association between pathogenic gene variants and severity of neurologic outcomes.