Article
Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.
American journal of medical genetics. Part A - 1 Mar 2004
Hitchins Megan P, Rickard Sarah, Dhalla Fatima, Fairbrother Una L, de Vries Bert B A, Winter Robin, Pembrey Marcus E, Malcolm Sue
Abstract excerpt
Angelman syndrome (AS) is an imprinted neurobehavioral disorder characterized by mental retardation, absent speech, excessive laughter, seizures, ataxia, and a characteristic EEG pattern. Classical lesions, including deletion, paternal disomy, or epigenetic mutation, are confirmatory of AS diagnoses in 80% of cases. Loss-of-function mutations of the UBE3A gene have been identified in approximately 8% of AS cases,...
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