Article published by Baylor College of Medicine
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 copies of the UBA5 gene to DEE44 was reported. Since then, twelve distinct missense variants in the UBA5 gene have been identified. Recently, Dr. Hugo J. Bellen and his team at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital generated a new fruit fly model to assess the severity of symptoms caused by each of these variants. The severity and the type of symptoms varied widely among different variants. For instance, five variants caused progressive motor defects, three of which also caused developmental delays or seizure-like symptoms. Their systematic analysis lays the foundation for better evaluation of the variants, which is important for DEE44 patients in the future and for the development of drugs and gene therapy to treat this rare disorder. The study was published in the journal eLife.