Associated Papers
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.
Heimer G et al.
Clinical Genetics, 2025
Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect-1 (GPIBD1).
Brady L et al.
American Journal of Medical Genetics. Part A, 2024
Functional categorization of gene regulatory variants that cause Mendelian conditions.
Cheng YHH et al.
Human Genetics, 2024
Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome.
Zhao X et al.
Epilepsy & Behavior : E&b, 2024
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
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
Cell-type-specific transcriptional regulation of PIGM underpins the divergent hematologic phenotype in inherited GPl deficiency.
Costa JR et al.
Blood, 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
Inherited GPI deficiency: a disorder of histone hypoacetylation.
Georgiou E et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2009
Targeted therapy for inherited GPI deficiency.
Almeida AM et al.
The New England Journal of Medicine, 2007
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Pode-Shakked B et al.
Molecular Genetics and Metabolism, 0
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