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Article

Differences in manifestations of epilepsy and developmental delay in PURA syndrome and 5q31 microdeletions.

Clinical genetics - 1 Oct 2024

Kofoed Andreas W S, Kristiansen Silvia S, Miranda Maria J, Rubboli Guido, Johannesen Katrine M

Abstract excerpt

PURA is mapped to chromosome 5q31 and plays a vital role in neuronal development and synapse formation. Here, we aim to explore PURA's impact on cognitive development and epilepsy phenotype by comparing patients with single nucleotide variants (SNPs) in the PURA gene (PURA-SNP patients) to those with 5q31 microdeletions including PURA (5q31del + PURA) and those with 5q31 microdeletions not including the PURA gene...

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Identifiers

PMID: 38923490
DOI: 10.1111/cge.14581

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