Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Contents
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 genes involved, PIGP, has recently been associated wit...
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Full title
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
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TN_cdi_doaj_primary_oai_doaj_org_article_a77991aeff9a40ac98117395bc72bdf3
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a77991aeff9a40ac98117395bc72bdf3
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ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.768
