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: Karin Buiting Charles Williams Bernhard Horsthemke Tags: Review Source Type: research
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