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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of<i>ATP8A2</i>-related disorders caused by missense changes

2024-05-15

Abstract excerpt

ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 are known to cause cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with two siblings presen...

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Literature Corpus work
f49507f9-088e-5abd-b00f-7f2305fe5f8e
DOI
10.1101/2024.05.15.24306843
Open publication

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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of<i>ATP8A2</i>-related disorders caused by missense changesDOI 10.1101/2024.05.15.24306843
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