Developmental and Epileptic Encephalopathy 55 (DEE55)

Developmental and Epileptic Encephalopathy 55, also known as glycosylphosphatidylinositol biosynthesis defect 14, is related to b-cell adult acute lymphocytic leukemia and muscular dystrophy, congenital, with cataracts and intellectual disability. An important gene associated with Developmental and Epileptic Encephalopathy 55 is PIGP (Phosphatidylinositol Glycan Anchor Biosynthesis Class P), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include brain and eye, and related phenotypes are seizure and hyperreflexia