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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Veröffentlicht in:Epilepsia
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2021
Schlagworte:
Brief Communications
Online Zugang: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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