Marisa Wexler, MS, senior science writer —

The expression, or activity, of a trio of genes are altered in the nerve cells of people with Angelman syndrome, a new study suggests, and researchers say that assessing these levels may help in disease diagnosis. Two of the genes, ADAMTS2, and SLC30A8, had lower-than-normal expression in nerve cells,…

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…

A teenage boy with Angelman syndrome, whose developmental differences were less substantial than those typically seen with the condition, was found to have genetic mosaicism — meaning some but not all of his cells harbored an Angelman-causing mutation — according to a case report. The diagnosis followed detailed genetic…

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…

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…

An intervention combining goal-oriented physical therapy with electrical stimulation of the brain via a device placed on the tongue led to marked gains in walking ability and other areas for a child with Angelman syndrome, according to a new report. The study, “Improvement in Gait and Participation…

Most children with Angelman syndrome experience substantially delayed development, a new study from China highlights. Such developmental delays are especially pronounced in Angelman patients who experience seizures — which implies that seizure control may be beneficial for the development of children with the neurological disorder. The findings indicated…

A novel gene therapy that codes for a version of the UBE3A protein that can be secreted by cells outperformed a gene therapy coding unmodified UBE3A protein in a rat model of Angelman syndrome, a new study reports. The study, “Improving Gene Therapy for Angelman Syndrome with…

Lower the levels of a small RNA molecule called miR-134 was shown to protect against seizures for both old and young mice in a model of Angelman syndrome in a study. The study, “AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome,” was…

Mice with Angelman syndrome (AS) show clear abnormalities in walking patterns, and assessing these patterns may be useful for measuring the efficacy of potential therapies, a new study indicates. “Gait analysis proved a reliable, translational assay that can accomplish within-subject lifespan development, regression, progression and/or decline without confounding test–retest…