News

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…

A specific behavior in an Angelman syndrome mouse model that could help researchers model and possibly predict cognitive problems in patients has been identified in a study. The research, “Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome,” was published in…

To mark Feb. 15, International Angelman Day, the Angelman Syndrome Foundation (ASF) has compiled a list of f 15 simple ways to help raise awareness for Angelman syndrome worldwide and in your hometown: Ask a local pediatrician if he or she is aware of Angelman syndrome. Help doctors learn about…

David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…

Epileptic seizures contribute more than previously thought to autism symptoms in patients with Angelman syndrome, according to researchers. The study, “Effect of epilepsy on autism symptoms in Angelman syndrome,” was published in the journal Molecular Autism. Autism and epilepsy often co-occur in patients with Angelman syndrome, but…

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…

This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…

Vagal nerve stimulation may effectively reduce seizures in children with Angelman syndrome with treatment-refractory epilepsy, a case series report shows. The device also made the children more alert and attentive, researchers reported. Since the study involved only three patients, for which researchers analyzed outcomes retrospectively, the team argued that randomized…

Patients with epilepsy show a pattern of robust brain structural abnormalities, including alterations in the thickness and volume of the brain’s gray matter. The findings, stemming from the largest neuroimaging analysis of epilepsy to date, may be helpful for people with Angelman syndrome, because epilepsy affects more than 80 percent of…

Deleting the Ube3a gene alters the social behavior of mice in a way that may mimic that of humans with Angelman syndrome, a study suggests. The research, “Hypersociability in the Angelman syndrome mouse model,” appeared in the journal Experimental Neurology. Humans inherit two copies of the Ube3a gene,…