Patricia Inacio, PhD, science writer —

Certain genetic defects of maternal origin may be a potential cause of autism spectrum disorder, a neurodevelopmental disorder often found in Angelman syndrome patients, a study suggests. The study, “A genome-wide investigation into parent-of-origin effects in autism spectrum disorder identifies previously associated genes including SHANK3,” was published in the European…

Loss of the maternal copy of the UBE3a gene in a specific set of nerve cells called GABAergic neurons is a key factor underlying Angelman syndrome, a mouse study suggests. The study, “GABAergic Neuron-Specific Loss of Ube3a Causes Angelman Syndrome-Like EEG Abnormalities and Enhances Seizure Susceptibility,” was published in the…

The seizures of Angelman syndrome patients are dynamic in nature and may change with age. While myoclonic seizures usually happen in early childhood, adolescents and young adults mainly have nonepileptic myoclonus, according to a retrospective study. The study, “Myoclonus in Angelman syndrome,” was published in the journal Epilepsy & Behaviour.

A potential target of the UBE3A enzyme, the protein underlying Angelman syndrome, has been identified in a recent study. The protein, called DNA damage-inducible protein 1 homologue 1 (DDI1) is expressed in the developing brain of mouse models and is a target of the UBE3A enzyme in human…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to GTX-101, GeneTx Biotherapeutics’s investigational compound for the treatment of Angelman syndrome. GTX-101, which is GeneTx’s first drug candidate, is an antisense therapy that can silence gene expression by binding to the RNA molecule that converts the gene into a…

Children and young adults with Angelman syndrome rely on a broad set of tools for communication, including speech, facial expressions, gestures, and symbols, a study suggests. The findings support the notion that teaching can help them improve what scientists call expressive communication skills, which go far beyond speech. The study,…

A mouse model for Angelman and Down syndrome has revealed deficits in touchscreen learning, suggesting that assessing this type of outcome may help identify effective therapies. The study, “Touchscreen learning deficits in Ube3a, Ts65Dn and Mecp2 mouse models of neurodevelopmental disorders with intellectual disabilities,” appeared in the journal…

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…

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,…