Team develops new fly model to find treatments for UBA5 deficiency, a rare epileptic brain disorder

Developmental and epileptic encephalopathy (DEE) refers to a group of neurodevelopmental conditions characterized by developmental delay, cognitive impairment, and seizures in children. In 2016, the first case linking variants in both the copies of UBA5 gene to DEE44 was reported. Since then, twelve distinct missense variants in the UBA5 gene have been identified in 25 patients.