A newly identified mutation in the UBE3A gene that causes an inherited, severe form of Angelman syndrome was found…
Articles by Marta Figueiredo, PhD
A comprehensive genetic test called whole-exome sequencing (WES) can identify potential rare and disease-causing mutations that would be missed by…
A new low-cost molecular test can accurately distinguish people with Angelman syndrome from those without the disease and those…
A ketogenic diet safely and rapidly controlled treatment-resistant prolonged non-convulsive seizure activity in two girls with Angelman syndrome caused…
Stronger brain wave abnormalities are significantly associated with more severe cognitive, motor, and communication symptoms and earlier seizure onset in…
A reliable tool for parents or caregivers to judge the quality of nonverbal communication in Angelman syndrome patients is now available,…
People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of…
A CRISPR-Cas9-based gene therapy designed to increase the production of ubiquitin protein ligase E3A (UBE3A) — the enzyme lacking…
The first wave of COVID-19Â in Europe severely disrupted access to care and raised stress and anxiety in people with…
Sleep disturbances in people with Angelman syndrome may be at least partly associated with iron deficiency, according…