Angelman Syndrome: Identification and Management

Neonatal Network : NN
Daniela BonelloJean Calleja-Agius

Abstract

Angelman syndrome (AS) is a neurobehavioral and genetically determined condition, which affects approximately 1 in 15,000 individuals. It is caused by various genetic mutations and deletions of the maternally-inherited UBE3A gene, on the 15q11-13 chromosomal region. The UBE3A gene, which encodes E3 ubiquitin ligase, shows tissue-specific imprinting, being expressed entirely from the maternal allele.The diagnosis of AS is confirmed either by methylation test or by mutation analysis. A more severe clinical picture is linked with the deletion phenotype.Patients with AS have a behavioral and motor pattern defined as "happy puppet" because it is characterized by puppet-like ataxic jerky movements; a happy, sociable disposition; and paroxysms of laughter. There is currently no cure for AS, and management is mainly symptomatic. Novel therapeutic options are directed toward the possibility of activating the silenced paternal copy of the UBE3A gene.

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Citations

Feb 23, 2020·The FEBS Journal·Carina MarangaSimão Teixeira da Rocha
Nov 6, 2020·Current Opinion in Pediatrics·Merlin G Butler
Sep 17, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Nycole A CoppingJill L Silverman

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Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

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