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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Brief Communications
Acesso em linha: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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