Marisa Wexler, MS, senior science writer —

The UBE3A protein is needed shortly after birth for the proper development of the dorsomedial striatum, part of a brain region called the basal ganglia, a mouse study suggests. Findings shed new light on the neurological disruptions that give rise to Angelman syndrome and its symptoms, a disease caused by mutations that…

Severe seizure events known as status epilepticus are common in people with Angelman syndrome, especially during childhood, a new review study found. Researchers noted that status epilepticus often causes subtle symptoms that may be overlooked by caregivers and clinicians, highlighting the importance of correctly identifying and promptly treating these…

Nanopore adaptive sequencing — a recently developed technology that determines the sequence of a strand of DNA by measuring changes in electrical activity as the DNA strand is fed through a tiny opening — can be used to diagnose Angelman syndrome and the related condition Prader-Willi syndrome (PWS), a…

In children with Angelman syndrome, the parts of the brain that recognize words show activity similar to that of children with typical development, but lesser activity is seen in brain regions needed to assign meaning to words, a study suggested. The study, “Typical and atypical neural…

A “wide spectrum” of vision impairments can be common in people with Angelman syndrome but may not be fully recognized, causing further difficulties in their cognitive and functional development, a study reported. Based on the findings, researchers recommend that children diagnosed with Angelman undergo routine vision assessments so that early…

In a mouse model of Angelman syndrome, male and female mice show similar responses in tests of memory and fear, a study found. “Our results support the general conclusion previously reported in the field that there is no clear sex difference in fear-conditioning learning in [Angelman] mice,” the researchers…

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…