Further delineation of PIGB-related early infantile epileptic encephalopathy.
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DOI: 10.1016/j.ejmg.2021.104268
Abstract: Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated… read more here.
Keywords: epileptic encephalopathy; pigb related; delineation pigb; infantile epileptic ... See more keywords