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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Detaylı Bibliyografya
Yayımlandı:Ann Clin Transl Neurol
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2019
Konular:
Brief Communications
Online Erişim: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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