Author Archives: Catarina Silva, MSc

Ovid Therapeutics’ experimental therapy OV101 has been shown to improve sleep, motor function, communication skills, and reduce challenging behavior and anxiety in patients with Angelman syndrome in a Phase 2 study. Results from the trial were recently discussed at the 2019 American Academy of Neurology’s (AAN)…

Specific eye conditions may be a clue to diagnosing Angelman syndrome in patients who also have abnormalities consistent with other diseases, a case report suggests. The report, “A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing,” was published in Case Reports in Ophthalmology. Angelman…

For the first time, researchers have characterized the nerve cell size and electrical activity in a key auditory area of the brain using a UBE3A gene mouse model. The findings may explain why those with Angelman syndrome are more susceptible to seizures. The study, “Enhanced Transmission at the Calyx…

Scientists have shown that thinner-than-normal nerve cell projections (axons) are involved in Angelman syndrome (AS) disease mechanism. The study, “Decreased Axon Caliber Underlies Loss of Fiber Tract Integrity, Disproportional Reductions in White Matter Volume, and Microcephaly in Angelman Syndrome Model Mice,” was funded by the Angelman…

A statin used to lower blood cholesterol levels, lovastatin, was seen to ease seizures and the excitatory neurotransmission that accompanies them in a mouse model of Angelman syndrome (AS)-associated epilepsy, researchers report. The steps taken in this study, its authors suggest, may also serve as a model for testing potential anti-epilepsy…

Angelman syndrome (AS) patients have a lower preference for social stimuli than typically developing individuals, a new study shows. Also, AS patients do not show increased pupil dilation in response to social scenarios that is seen in healthy subjects. The study resulted from a collaboration between several U.S. institutions: Cincinnati Children’s…

Decreasing UBE3A levels has a profound effect on the expression of multiple other genes, mostly due to chemical modifications in the DNA, a new study found. The research shows that loss of UBE3A-affected genes were associated with autism, decreased motor and cognitive activity, and energy expenditure, providing a new link between…