Associated Papers
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.
Lu T et al.
The Journal of Biological Chemistry, 2025
Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy.
Buhusayen FAM et al.
Cureus, 2025
ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.
Kamate M et al.
Cerebellum (london, England), 2024
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S1.xlsx › SNVs
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins.
Salian S et al.
Clinical Genetics, 2021
Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy.
Darra F et al.
Neurology. Genetics, 2021
Arv1; a "Mover and Shaker" of Subcellular Lipids.
Corbalan JJ et al.
Contact (thousand Oaks (ventura County, Calif.)), 0
Select a paper to view details