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Author

Maria Mazurkiewicz-Bełdzińska

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Review Open access Aug 2026

Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review

This temporal dissociation reflects differential tissue vulnerability to intracellular ATP/GTP and NAD+ depletion caused by the primary enzymatic defect, and represents a continuous PRPS1-related neurometabolic spectrum.

Bartosz Rodziewicz, M. Kacperski, Kacper Kisiński et al. · 0 citations
Aug 2026

Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.

Earlier SCB initiation was associated with earlier seizure offset and more favourable developmental outcomes, underscoring the importance of early genetic diagnosis and timely SCB therapy, and the use of SCBs, particularly CBZ and OXC, as first-line therapy in (LOF) KCNQ2-DEE and SeL(F)NE is supported.

C. Millevert, M. Hairabedian, Samuel Dahan et al. · 0 citations

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