Mutations in the phosphatidylinositol glycan C (<i>PIGC</i>) gene are associated with epilepsy and intellectual disability

Abstract

<i>PIGC</i> joins the list of genes in which mutations result in defective biosynthesis of GPI anchoring, manifesting by global developmental delay and seizure disorder. The lack of specific biomarker dictates exome sequencing as the diagnostic procedure of choice in similar patients.