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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Brief Communications
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6530525/
https://ncbi.nlm.nih.gov/pubmed/31139695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.768
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