Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.
Klangjorhor J et al.
International Journal of Molecular Sciences, 2025
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J et al.
Brain : a Journal of Neurology, 2024
Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.
Ranjan A et al.
Cureus, 2024
Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.
Li D
Sub-cellular Biochemistry, 2024
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Ben Ayed I et al.
Frontiers in Neurology, 2023
Structure of human glycosylphosphatidylinositol transamidase.
Zhang H et al.
Nature Structural & Molecular Biology, 2022
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.
Bayat A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3.
Yang L et al.
Frontiers in Genetics, 2018
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.
Skauli N et al.
Genes, 2016
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