Associated Papers
ARV1 is a component of the enzyme initiating glycosylphosphatidylinositol biosynthesis.
Lu T et al.
The Journal of Biological Chemistry, 2025
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.
Thorpe HJ et al.
Biorxiv : the Preprint Server for Biology, 2024
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J et al.
Brain : a Journal of Neurology, 2024
38456468 (PubMed )
Supplement: awae056_supplementary_data.zip › brain-2023-02061-File008.pdf
Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.
Crenshaw MM et al.
American Journal of Medical Genetics. Part A, 2023
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Liu X et al.
Molecular Biology Reports, 2022
Ultradeep Sequencing Analysis of Paroxysmal Nocturnal Hemoglobinuria Clones Detected by Flow Cytometry: PIG Mutation in Small PNH Clones.
Jeong D et al.
American Journal of Clinical Pathology, 2021
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A et al.
Epilepsy Research, 2021
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A et al.
Epilepsia, 2020
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Neuhofer CM et al.
Molecular Syndromology, 2020
The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study.
Agrahari AK et al.
Heliyon, 2019
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV et al.
Molecular Genetics & Genomic Medicine, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2018
A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy.
Lin WD et al.
Seizure, 2018
The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M et al.
Orphanet Journal of Rare Diseases, 2015
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