Admissions Open
Admissions Open
Angelman syndrome is a rare genetic and neurological disorder. It is characterised by jerky movements, frequent and sometimes inappropriate laughter, a love of water, severe mental retardation and learning disabilities, ataxia, and susceptibility to seizures and sleep disorder. The facial features are subtle and include a wide, smiling mouth, prominent chin, and deepest eyes. It is caused by a variety of genetic abnormalities involving the chromosome 15q11–13 region, which is subject to genomic imprinting. The genetic mechanisms identified so far in AS are found in 85–90% of those with the clinical phenotype and all interfere with UBE3A expression.