Steve Bryson, PhD,  science writer—

A previously unreported variant in the UBE3A gene caused an inherited form of Angelman syndrome in six members of a Chinese family, a study reports. The finding expands the genetic spectrum of Angelman syndrome and supports genetic counseling for those affected, its researchers said. The study, “…

Early intervention with environmental stimulation appears to have restored motor coordination and behaviors in a mouse model of Angelman syndrome. The protocol was more successful in male mice than in females, suggesting that “slightly different therapeutic approaches may need to be taken with males and females undergoing treatment for [Angelman…

Computer analysis of the faces of Angelman syndrome patients found distinct facial features that changed from childhood to adulthood, a study has found. These differences in facial structure may help identify and diagnose people with the condition, the researchers said. The study, “Investigation of age-related facial…

A novel dual gene therapy rescued the function of the UBE3A gene in a mouse model of Angelman syndrome, the gene that is faulty in people with the condition, and restored motor-skill learning and essential behaviors, a study has demonstrated. “This was a proof-of-concept study, but if these early…

Epilepsy starting at an earlier age and sleep problems independently predicted increased hyperactivity in Norwegian people with Angelman syndrome, a study concluded. “The results of this study may have potentially important implications for understanding the complex links between hyperactivity, sleep problems and early epilepsy in [Angelman syndrome],” the scientists…

OV101 (gaboxadol), designed to improve motor skills, cognition, and memory in people with Angelman syndrome, did not meet its primary goal (endpoint) in Ovid Therapeutics’ Phase 3 NEPTUNE clinical trial, according to top-line results. The…

Parents of children with Angelman syndrome think gene therapy trials to find a cure should be a priority and should focus on neurological symptoms as well as communication and motor skills, an online survey reveals.  Compared to a group of parents of…