News

Study Identifies Altered Brain Connectivity in Angelman Syndrome

People with Angelman syndrome have altered networks of brain connectivity, which may play a role in developing the behavioral abnormalities that mark the condition, according to a new study. The study, “Disrupted Topological Organization of White Matter Network in Angelman Syndrome,” was published in the Journal of Magnetic…

New UBE3A Missense Mutation in Angelman Child Described

A new mutation in the UBE3A gene associated with Angelman syndrome was described in a recent report and modeling studies suggest the modification interferes with the function of the UBE3A protein by decreasing its ability to interact with ubiquitin, another protein. The study, “Studying Disease-Associated UBE3A Missense…

Treating Sleep, GI Problems May Help Ease Behavioral Challenges

Most children and adolescents with Angelman syndrome experience problems with sleep and digestive issues such as constipation, a new study highlights. Challenging behaviors such as aggression are generally more common and more severe in these children, which suggests that treating underlying symptoms may help to manage their behaviors. “Findings…

Trial: Gene Therapy GTX-102 Shows Promise in Angelman Children

The investigational gene therapy GTX-102 shows potential to lessen disease severity and improve function in children and adolescents with Angelman syndrome, according to interim data from a Phase 1/2 clinical trial. Six-month follow-up data for 11 patients showed that treatment with GTX-102 resulted in improvements across exploratory…