Developmental and epileptic encephalopathy 80 (DEE80) is a type of inherited glycosylphosphatidylinositol deficiency disorders (IGDs), a subgroup of congenital disorders of glycosylation. Only few cases have been reported and were characterized by early-onset seizures, global developmental delay, intellectual delay and peripheral neuropathy. It is transmitted in an autosomal recessive manner. The presentation of developmental and epileptic encephalopathy 80 often overlaps with DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation and seizures).
PIGB