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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Dades bibliogràfiques
Publicat a:Epilepsia
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2021
Matèries:
Brief Communications
Accés en línia: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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