A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report
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Introduction: PIGK-related glycosylphosphatidylinositol (GPI) biosynthesis disorder is an extremely rare neurodevelopmental condition, with only 12 cases described to date. It is caused by biallelic mutations in the PIGK gene, wh... ...
