Angelman syndrome — insights into a rare neurogenetic disorder

Nature Reviews Neurology 12, 584 (2016). doi:10.1038/nrneurol.2016.133 Authors: Karin Buiting, Charles Williams & Bernhard Horsthemke Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity. Angelman syndrome results from loss of function of the imprinted UBE3A (ubiquitin–protein
Source: Nature Reviews Neurology - Category: Neurology Authors: Tags: Review Source Type: research