Associated Papers
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
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
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
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
Belet S et al.
Human Mutation, 2014
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