"epileptic encephalopathy" refers to a condition where epilepsy (recurring seizures) affects the brain's normal function and development. It may result in intellectual or developmental disabilities. Full definition
Individuals with epileptic encephalopathy caused by mutations in DENND5A present with serious anomalies in brain structure along with calcifications in the brain and altered facial features. (sciencedaily.com)
Compound heterozygous mutations in UBA5 causing early - onset epileptic encephalopathy in two sisters. (decode.com)
The scientists from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators in Saudi Arabia, Jordan, Germany, and at SickKids Hospital and the University of Toronto, have discovered that a severe form of epileptic encephalopathy is caused by recessive loss - of - function mutations in the gene DENND5A. (sciencedaily.com)