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Vitamin B 6 –responsive epilepsy due to inherited GPI deficiency

19 Sept 2013

Abstract excerpt

Glycosylphosphatidylinositol (GPI) is a glycolipid that anchors many proteins to the cell surface. There are at least 26 genes involved in the biosynthesis of GPI-anchored proteins (GPI-APs).1 Recently, many inherited GPI deficiencies (IGDs) were found using whole-exome sequencing.2–4 The major symptoms of IGDs include mental retardation, epilepsy, coarse facial features, and multiple organ anomalies that vary in...

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PMID: 24049131
DOI: 10.1212/wnl.0b013e3182a8411a

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