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ATP1A1 de novo Mutation-Related Disorders: Clinical and Genetic Features

21 Apr 2021

Abstract excerpt

Background:ATP1A1 encodes an α1 isoform of Na+/K+-ATPase, which is expressed abundantly in kidneys and central nervous system. ATP1A1 variants may cause Na+/K+-ATPase loss of function and lead to a wide spectrum of phenotypes. This study aims to summarize the clinical and genetic features of ATP1A1 de novo mutation-related disorders and explore the potential correlations between phenotypes and genotypes. Methods:...

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PMID: 33968856
DOI: 10.3389/fped.2021.657256

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