Associated Papers
Identification of a novel splicing variant in the phosphatidylinositol glycan class S (PIGS) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report.
Li W et al.
Translational Pediatrics, 2023
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Efthymiou S et al.
Epilepsia, 2021
33410539 (PubMed )
Supplement: EPI-62-e35-s001.xlsx › Table_1
Compound Heterozygous PIGS Variants Associated With Infantile Spasm, Global Developmental Delay, Hearing Loss, Visual Impairment, and Hypotonia.
Zhang L et al.
Frontiers in Genetics, 2020
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Nguyen TTM et al.
American Journal of Human Genetics, 2018
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