GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review

Falsaperla, Raffaele; Sortino, Vincenzo; Vitaliti, Giovanna; Privitera, Grete Francesca; Ruggieri, Martino; Fusto, Gaia; Pappalardo, Xena Giada

doi:10.1007/s10048-023-00742-8

Neurogenetics

2024

DOI: 10.1007/s10048-023-00742-8

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GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review

Raffaele Falsaperla,

Vincenzo Sortino,

Giovanna Vitaliti

et al.

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2024

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Cited by 1 publication

References 34 publications

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

Falsaperla,

Sortino,

Schinocca

et al. 2024

Genes

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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 exhibited pronounced sialorrhea and seizures, which were effectively treated with the ketogenic diet (KD). Our integrative approach, combining a literature review and bioinformatics data, has led to the first documented clinical case showing improvement in both sialorrhea and seizures with KD treatment, a phenomenon not previously reported. Although a direct relationship between the de novo PURA mutation and the KD was not established, we identified a novel frameshift deletion associated with a new clinical phenotype.

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

Falsaperla,

Sortino,

Schinocca

et al. 2024

Genes

View full text Add to dashboard Cite

show abstract

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GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review

Cited by 1 publication

References 34 publications

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

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

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