Article

Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome

2025-05-21

Abstract excerpt

Vici syndrome (VS) is a rare pediatric genetic disorder characterized by profound developmental delay, seizures, immune deficits, cardiomyopathy, and progressive motor dysfunction. This devastating condition is caused by pathogenic variants in the EPG5 gene, which encodes a regulator of autophagy, leading to the accumulation of toxic intracellular material and widespread cellular dysfunction. There are no effecti...

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Literature Corpus work: c2c8b0bb-2a14-590d-b03e-d668dd1a7332
DOI: 10.1101/2025.05.16.654529

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Progressive neuroinflammation and deficits in motor function in a mouse model with an <i>Epg5</i> pathogenic variant of Vici syndrome

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