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Article

PURA-Related Neurodevelopmental Disorders with Epilepsy Treated with Ketogenic Diet: A Case-Based Review.

Genes - 27 Jun 2024

Falsaperla Raffaele, Sortino Vincenzo, Schinocca Marina Antonietta, Fusto Gaia, Rizzo Roberta, Barberi Chiara, Ruggieri Martino, Pappalardo Xena Giada

Abstract excerpt

PURA syndrome is a congenital developmental disorder caused by de novo mutations in the PURA gene, which encodes a DNA/RNA-binding protein essential for transcriptional and translational regulation. We present the case of an 11-year-old patient with a de novo frameshift variant in the PURA gene, identified through whole exome sequencing (WES). In addition to the classical PURA deficiency phenotype, our patient...

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Identifiers

PMID: 39062627
DOI: 10.3390/genes15070848
PMCID: PMC11276249

Provenance

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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