(List last updated March 2021)
*Denotes full text. For links that do not contain the full text, please contact me to obtain the full text PDF.
Johnston et al. 2012* – The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria
van der Crabben et al. 2014 – Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
Swoboda et al. 2014* – A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload
Kato et al. 2014 – PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
Belet et al. 2014 – Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
Soden et al. 2014* – Effectiveness of Exome and Genome Sequencing Guided by Acuity of Illness for Diagnosis of Neurodevelopmental Disorders (note: more about genetic sequencing than specific PIGA cases)
Tarailo-Graovac et al. 2015* – The genotypic and phenotypic spectrum of PIGA deficiency
Zhu et al. 2015* – Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios (note: more about genetic sequencing than specific PIGA cases)
Joshi et al. 2016 – Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency.
Fauth et al. 2016 – A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Kim et al. 2016 – A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.
Trump et al. 2016* – Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis (note: more about genetic sequencing than specific PIGA cases)
Fokstuen et al. 2016* – Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders (note: more about genetic sequencing than specific PIGA cases)
Olson et al. 2017 – Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression
Xie et al. 2018 – A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins.
Yang et al. 2018 – A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS 2) family pedigree via whole-exome sequencing
Knaus et al. 2018 – Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Lin et al. 2018* – A novel PIGA mutation in a Taiwanese family with early-onset epileptic encephalopathy
Low et al. 2018* – A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay
Cash et al. 2019 – PIGA Related Disorder as a Range of Phenotypes Rather Than Two Distinct Subtypes
Neuhofer et al. 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
Jiao et al. 2020* – Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)
Bayat et al. 2020 – Lessons learned from 40 novel PIGA patients and a review of the literature
Cabasson et al. 2020 – Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
Yucel et al. 2020 – PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity
Bayat et al. 2021 – Deciphering the premature mortality in PIGA-CDG – An untold story