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Article

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

Experimental & molecular medicine - 1 Feb 2026

Thornton Bradley T, Hardinger Alexandra G, Pence Laramie, Kumar Priyanka Prem, Connolly Nikolas, Weir Scott J, Vivian Jay L

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. Less-severe EPG5...

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Identifiers

PMID: 41618100
DOI: 10.1038/s12276-026-01644-z
PMCID: PMC12868609

Genes

EPG5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.PMID 41618100Read ↗

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