News

A process known as “mosaic imprinting” may be responsible for milder symptoms observed in patients with atypical Angelman syndrome, according to a case series on three young patients. The study, “Atypical Angelman Syndrome Due to a Mosaic Imprinting Defect: Case Reports and Review of the Literature” was…

Patients with Angelman syndrome have significant volume loss of the brain’s gray matter, possibly contributing to motor dysfunction, a study suggests. The study, “From Cortical and Subcortical Grey Matter Abnormalities to Neurobehavioral Phenotype of Angelman Syndrome: A Voxel-Based Morphometry Study,” was published in PLOS One. Angelman syndrome is…

UBE3A, the protein underlying Angelman syndrome, is crucial for the maturation and adaptability of the visual circuits in the brain, according to a recent review study. The study, “Common Defects of Spine Dynamics and Circuit Function in Neurodevelopmental Disorders: A Systematic Review of Findings From in…

A molecular technique, known as chromosomal microarray analysis, enables early diagnosis of several genetic neurodevelopmental disorders — including Angelman syndrome — and improved treatment management, according to a Chinese study. The study, “Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders,” was…

The U.S. Food and Drug Administration (FDA) has approved Epidiolex to treat Dravet and Lennox-Gastaut syndromes, making history as the first approved therapy for Dravet, as well as the first marijuana-derived treatment to receive FDA approval for any indication. The FDA’s action also may bring hope to patients with…

Dietary supplementation with ketone esters significantly decreased the frequency of seizures and improved behavior, learning, memory, and overall function in a recent mouse study of Angelman syndrome. The study, “Ketone ester supplementation attenuates seizure activity, and improves behavior and hippocampal synaptic plasticity in an Angelman syndrome mouse model,” was…

What a difference a number makes — in this case, the “1” at the end of Q93.51. The added digit, announced today by the Angelman Biomarkers and Outcome Measures Alliance (A-BOM), will for the first time give Angelman syndrome (AS) its own unique disease code — crucial not only for…

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…

The loss of the gene responsible for Angelman syndrome impairs the responses of nerve cells to certain visual stimuli but not their ability to perceive changes in luminance, a mouse study suggests. Importantly, some of these impairments can be corrected by expressing the missing gene in a specific population of nerve…

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…