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July 20, 2018July 20, 2018

Two Angelman Conferences Planned for August on UNC Chapel Hill Campus

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Two organizations that specialize in Angelman syndrome have scheduled back-to-back conferences at the University of North Carolina (UNC) at Chapel Hill early next month to discuss emerging research on therapies ... Read more

July 13, 2018July 13, 2018

‘Mosaic Imprinting’ Linked to Milder Symptoms In Atypical Angelman Syndrome, Case Series Shows

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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, ... Read more

July 9, 2018July 9, 2018

Loss of Gray Matter in Brain May Contribute to Motor Dysfunction in Angelman, Study Suggests

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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 ... Read more

July 6, 2018July 6, 2018

Mutations in UBE3A Gene Impair Normal Development of Brain Circuits, Review Suggests

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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 ... Read more

July 2, 2018July 2, 2018

Chromosomal Diagnostic Test Allows for Early Diagnosis, Better Treatment Planning in Angelman Patients

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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 ... Read more

June 27, 2018June 27, 2018

Cannabidiol Approved by FDA for Dravet May Help Angelman Patients, ABOM Director Says

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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 ... Read more

June 25, 2018June 25, 2018

Dietary Supplementation with Ketone Esters Significantly Reduced Seizures in Mouse Study

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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, ... Read more

June 19, 2018June 19, 2018

Angelman Finally Gets Own Disease Code and Way to Track Patient Numbers

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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), ... Read more

June 18, 2018June 18, 2018

Autism, Common in Angelman, May be Caused by Maternal Genetic Defects, Study Shows

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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 ... Read more

June 15, 2018June 15, 2018

Lost Gene Responsible for Angelman Impairs Visual Responses, but Not Light Perception

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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 ... Read more

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