Progress in the pathogenesis and genotype-phenotype of Angelman syndrome / 中华实用儿科临床杂志

ABSTRACT

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delay, intellectual disability, exuberant behavior with happy demeanor, speech impairment, and epileptic seizures.The loss of UBE3A allele on maternal chromosome 15q11-13 is the main cause of AS.However, the pathogenesis and genotype-phenotype of AS is not yet clear.This study aims to review the research progress of AS.