Associated Papers
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
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
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.
Bayat A et al.
Developmental Medicine and Child Neurology, 2022
First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene.
Larsen KB et al.
Neuropathology and Applied Neurobiology, 2019
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
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