Associated Papers
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.
Lu T et al.
The Journal of Biological Chemistry, 2025
When Genes Misfire: ARV1 and the Unseen Battle Against Pediatric Epileptic Encephalopathy.
Hammad Seroor Jadah R et al.
Cureus, 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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report.
Karabinos A et al.
Journal of Medical Case Reports, 2022
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
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Assessing BRCA1 activity in DNA damage repair using human induced pluripotent stem cells as an approach to assist classification of BRCA1 variants of uncertain significance.
Ozgencil M et al.
Plos One, 2021
A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Segel R et al.
Neurogenetics, 2020
Cold-sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase.
Okai H et al.
Febs Letters, 2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
Davids M et al.
Molecular Genetics and Metabolism, 2020
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Nashabat M et al.
Seizure, 2019
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Palmer EE et al.
Human Molecular Genetics, 2016
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
Arv1; a "Mover and Shaker" of Subcellular Lipids.
Corbalan JJ et al.
Contact (thousand Oaks (ventura County, Calif.)), 0