The presence of a common genetic variation in women may increase the risk of deficient genomic imprinting and the development of Angelman syndrome in their children, a study shows. The researchers emphasized, however, that only rare cases of Angelman are caused by imprinting defects, and that the risk…
Activating the insulin‐like growth factor 2 receptor, or IGF-2R — a cell surface receptor involved in protein trafficking and degradation within cells — partially or completely corrected cognitive, motor, and behavioral deficits in a mouse model of Angelman syndrome, a study shows. Notably, these benefits were observed with the…
Newer anti-epileptic medications — such as Keppra (levetiracetam), Lamitcal (lamotrigine), and clobazam — as well as low glycemic index treatment may be more effective in reducing epileptic seizures and associated with fewer side effects than older ones — namely valproic acid and clonazepam…
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…
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,”…
Get regular updates to your inbox.