Oral diazepam is an effective treatment for Angelman syndrome patients who have prolonged seizure activity without convulsions, a study shows. It is also safe, researchers said. The study, “Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome,” appeared in the journal Epilepsy & Behaviors. Diazepam,…
News
The U.S.’s fifth Angelman syndrome clinic has opened at Vanderbilt University Medical Center in Nashville. The Angelman Syndrome Clinic at Vanderbilt was established with support from the Angelman Syndrome Foundation. It will offer a variety of resources, preventing patients from having to go to several facilities across the nation…
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…
Two equally rare diseases — Angelman and Prader-Willi syndrome — originate from the same genetic deletion, but lead to radically different outcomes. These two disorders, along with dup15q syndrome, form the core of research by Stormy Chamberlain, PhD, an associate professor of genetics and genome sciences…
A possible reason for the reduced ocular pigmentation — the pale eyes — found in people with Angelman syndrome and Prader-Willi syndrome was described by scientists at Vanderbilt University Medical Center. The research team found that mice lacking the GABRB3 gene have nearly complete loss of retinal pigmentation. Since this gene is…
A diet that keeps blood sugar levels in check can help Angelman syndrome patients reduce the number epileptic seizures they have, Massachusetts researchers report. The Massachusetts General Hospital team said the diet, called low glycemic index treatment, or LGIT, also improved patients’ cognition, physical function, and behavior. Their study, published in …
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,…
New targets of the UBE3A enzyme responsible for Angelman syndrome have been identified, increasing scientific knowledge behind the molecular processes leading to this disease. The study, “Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome,”…
A case of bladder cancer in a young woman with Angelman syndrome suggests a potential association between these two conditions. Reported by East Tennessee State University researchers, the case was described in “Urothelial Carcinoma in a 22-Year-Old Female with Angelman Syndrome,” published in Case Reports in Urology.
More than 90 percent of Angelman syndrome cases are caused by genetic abnormalities affecting the E3 ubiquitin ligase (UBE3A) gene. In the study “A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders,” a team at Georgia State University reviewed what is known about this enzyme…
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