Biallelic mutations in PIGP cause developmental and epileptic encephalopathy

Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of the gene...

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Detalles Bibliográficos
Autores principales: Krenn, Martin, Knaus, Alexej, Westphal, Dominik S., Wortmann, Saskia B., Polster, Tilman, Woermann, Friedrich G., Karenfort, Michael, Mayatepek, Ertan, Meitinger, Thomas, Wagner, Matias, Distelmaier, Felix
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530525/
https://www.ncbi.nlm.nih.gov/pubmed/31139695
http://dx.doi.org/10.1002/acn3.768

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530525/
https://www.ncbi.nlm.nih.gov/pubmed/31139695
http://dx.doi.org/10.1002/acn3.768

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