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

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...

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Main Authors: Zehong Lin (Author), Jinliang Li (Author), Taoyun Ji (Author), Ye Wu (Author), Kai Gao (Author), Yuwu Jiang (Author)
Format: Book
Published: Frontiers Media S.A., 2021-04-01T00:00:00Z.
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