ArticleMolecular genetics and metabolism
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.
Article in Molecular genetics and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 14 citations in OpenAlex.
- Biosynthesis of GPI anchored proteins, its deficiencies and treatment.Journal of human genetics · 2025Review
- Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.Clinical genetics · 2025Article
- A Comprehensive Overview of the Current Status and Advancements in Various Treatment Strategies against Epilepsy.ACS pharmacology & translational science · 2024Review
- Role ofBiomedical reports · 2024Review
- Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum ofHuman mutation · 2024Article
- Nutrition interventions in congenital disorders of glycosylation.Trends in molecular medicine · 2022Review
- Treatment Options in Congenital Disorders of Glycosylation.Frontiers in genetics · 2021Review
- Congenital disorders of glycosylation: A multi-genetic disease family with multiple subcellular locations.Journal of mother and child · 2020Review
- Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.Molecular genetics and metabolism · 2020Article
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Authors and funding
26 authors at 4 institutions in 2 countries.
Funding
Abstract
Defects of the glycosylphosphatidylinositol (GPI) biosynthesis pathway constitute an emerging subgroup of congenital disorders of glycosylation with heterogeneous phenotypes. A mutation in the promoter of PIGM, resulting in a syndrome with portal vein thrombosis and persistent absence seizures, was previously described in three patients. We now report four additional patients in two unrelated families, with further clinical, biochemical and molecular delineation of this unique entity. We also describe the first prenatal diagnosis of PIGM deficiency, allowing characterization of the natural history of the disease from birth. The patients described herein expand the phenotypic spectrum of PIGM deficiency to include macrocephaly and infantile-onset cerebrovascular thrombotic events. Finally, we offer insights regarding targeted treatment of this rare disorder with sodium phenylbutyrate.
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