Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 02/24/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 67 publications
EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.
Journal: Journal of molecular neuroscience : MN
Published: July 22, 2025
Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.
Journal: bioRxiv : the preprint server for biology
Published: July 15, 2025
Heimler Syndrome: A Report of 2 Indian Children With Review of Literature.
Journal: Journal of child neurology
Published: April 30, 2025
A Novel Crossover between Vici Syndrome and Spastic Paraplegia: Variant of EPG5 in Spastic Paraplegia.
Journal: Indian journal of pediatrics
Published: November 11, 2024
An 18-month-old girl with Vici syndrome: A case report study.
Journal: Molecular genetics and metabolism reports
Published: October 23, 2024
Autophagy controls neuronal differentiation by regulating the WNT-DVL signaling pathway.
Journal: Autophagy
Published: October 10, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.
Journal: Autophagy
Published: September 29, 2024
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients.
Journal: Autophagy
Published: September 29, 2024
Expanding the Spectrum of Immune Abnormalities in VICI Syndrome.
Journal: Journal of clinical immunology
Published: February 15, 2024
An update on autophagy disorders.
Journal: Journal of inherited metabolic disease
Published: February 15, 2024
Perinatal clinical course of Vici syndrome associated with novel EPG5 variants: unique cardiac changes and difficulty with foetal diagnosis.
Journal: BMJ case reports
Published: January 05, 2024
Last Updated: 02/24/2026