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Article

Consolidating the Role of Mutated ATP2B2 in Neurodevelopmental and Cerebellar Pathologies.

Clinical genetics - 1 Jan 2025

Stehr Antonia M, Lenberg Jerica, Friedman Jennifer, Dobbelaere Dries, Imbard Apolline, Levy Jonathan, Donoghue Sarah, Derive Nicolas, Stoeva Radka, Gueguen Paul, Zech Michael

Abstract excerpt

Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that ATP2B2 (encoding PMCA2) is required for synaptic function and Purkinje-cell integrity in the cerebellum. A recent case series has linked ATP2B2 to a novel entity, characterized by neurodevelopmental and movement phenotypes, in...

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Identifiers

PMID: 39367743
DOI: 10.1111/cge.14622
PMCID: PMC11608835

Genes

ATP2B2

Provenance

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