Keywords
epilepsy, chromosome, Angelman syndrome, the UBE3A gene, tremor-shivering, ataxia
Abstract
Angelman syndrome (AS) - is a chromosomal syndrome characterized by atypical autism with intellectual retardation, epilepsy, a gross impairment of speech, motor disorders, ataxia, as well as special the behavior (happy demeanor) of patients in combination with frequent laughter or smiling bursts. The disease is caused by mutation of the genes on the maternally inherited 15q11.2-13 locus or gene UBE3A- part of the ubiquitin complex. These genes regulate the functional activity of neurons in the hippocampus, olfactory bulb, the primary visual cortex, cerebellum.