Associated Papers
Simpson-Golabi-Behmel syndrome.
Vaisfeld A et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
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
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern.
Gabaldon-Albero A et al.
Genes, 2024
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
Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.
Muckenthaler L et al.
Blood, 2022
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A et al.
Epilepsy Research, 2021
PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity.
Perk Yucel P et al.
Acta Neurologica Belgica, 2020
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
Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).
Jiao X et al.
Orphanet Journal of Rare Diseases, 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
Progress in the molecular mechanisms of genetic epilepsies using patient-induced pluripotent stem cells.
Zhou R et al.
Epilepsia Open, 2018
A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy.
Lin WD et al.
Seizure, 2018
CDG Therapies: From Bench to Bedside.
Brasil S et al.
International Journal of Molecular Sciences, 2018
A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.
Low KJ et al.
Seizure, 2018
Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome".
Fauth C et al.
Prenatal Diagnosis, 2017
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Olson HE et al.
Annals of Neurology, 2017
A hypomorphic PIGA gene mutation causes severe defects in neuron development and susceptibility to complement-mediated toxicity in a human iPSC model.
Yuan X et al.
Plos One, 2017
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Fauth C et al.
American Journal of Medical Genetics. Part A, 2016
The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M et al.
Orphanet Journal of Rare Diseases, 2015
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
Belet S et al.
Human Mutation, 2014
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
Johnston JJ et al.
American Journal of Human Genetics, 2012