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Article

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

Neurogenetics - 1 Oct 2024

Flannery Kyle P, Safwat Sylvia, Matsell Eli, Battula Namarata, Hamed Ahlam A A, Mohamed Inaam N, Elseed Maha A, Koko Mahmoud, Abubaker Rayan, Abozar Fatima, Elsayed Liena E O, Bhise Vikram, Molday Robert S, Salih Mustafa A, Yahia Ashraf, Manzini M Chiara

Abstract excerpt

ATPase, class 1, type 8 A, 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, impaired intellectual development, and disequilibrium syndrome 4 (CAMRQ4) which is often associated with encephalopathy, global developmental delay, and severe motor deficits. Here, we present a family with...

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Identifiers

PMID: 39066872
DOI: 10.1007/s10048-024-00773-9
PMCID: PMC11534842

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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