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
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