Associated Papers
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
Editorial: Inherited Protein Glycosylation Defects in Humans.
Jezela-Stanek A et al.
Frontiers in Genetics, 2022
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.
Wu F et al.
Ophthalmic Genetics, 2021
Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.
Bayat A et al.
Frontiers in Genetics, 2021
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