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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Brief Communications
Online adgang: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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