Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy

The phosphatidylinositol glycan anchor biosynthesis class S protein (PIGS) gene has recently been implicated in a novel congenital disorder of glycosylation resulting in autosomal recessive inherited glycosylphosphatidylinositol‐anchored protein (GPI‐AP) deficiency. Previous studies described seven...

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Bibliographic Details
Published in:Epilepsia
Main Authors: Efthymiou, Stephanie, Dutra‐Clarke, Marina, Maroofian, Reza, Kaiyrzhanov, Rauan, Scala, Marcello, Reza Alvi, Javeria, Sultan, Tipu, Christoforou, Marilena, Tuyet Mai Nguyen, Thi, Mankad, Kshitij, Vona, Barbara, Rad, Aboulfazl, Striano, Pasquale, Salpietro, Vincenzo, Guillen Sacoto, Maria J., Zaki, Maha S., Gleeson, Joseph G., Campeau, Philippe M., Russell, Bianca E., Houlden, Henry
Format: Artigo
Language:Inglês
Published: John Wiley and Sons Inc. 2021
Subjects:
Brief Communications
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898547/
https://ncbi.nlm.nih.gov/pubmed/33410539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16801
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