Angelman Syndrome
Angelman Syndrome is an early childhood, rare, neurodevelopmental disorder characterized by a severe cognitive impairment, absent speech, ataxia, seizures, dysmorphic facial features, sleep disturbances and inappropriate laughter. It affects approximately 1:12000 - 1:20000 live births worldwide and usually manifests in children soon after birth to 2 years. The cause of Angelman syndrome is a loss of function of the imprinted ubiquitin-protein ligase E3A (UBE3A) gene on chromosome 15q11.2-q13. The loss of function could be due to mutations within UBE3A (~11%) gene, uniparental disomy (~7%) and imprinting defects (~3%). Currently, there are no effective treatments for this disease. All existing therapeutics are focusing on alleviating seizure and sleep disturbances as well as on behavioral and physical therapy.