Associated Papers
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
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A et al.
Epilepsia, 2020
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
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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
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
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.
Joshi C et al.
Brain & Development, 2016
The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M et al.
Orphanet Journal of Rare Diseases, 2015
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