Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
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DOI: 10.1002/acn3.768
Abstract: 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… read more here.
Keywords: epileptic encephalopathy; mutations pigp; biallelic mutations; pigp cause ... See more keywords