Resumo

COTE-OROZCO, Juan E; MERA-SOLARTE, Paola del Rocío  e  ESPINOSA-GARCIA, Eugenia. Neuropsychiatrie phenotype of Angelman syndrome and clinical care: report of seven cases. Arch. argent. pediatr. [online]. 2017, vol.115, n.2, pp.e99-e103. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2017.e99.

Angelman syndrome is a neurogenetic disorder caused by a lack or reduction of expression of UBE3A located within chromosome 15, which codes for ubiquitin protein ligase E3A, which has a key role in synaptic development and neural plasticity. Its main features are developmental delay/intellectual disability, lack of speech, a characteristic behavioural profile, and epilepsy. We describe clinical features and management of seven cases with 15q11-13 deletion. Due to their life expectancy, knowing and managing its comorbidities is crucial to improve their quality of life. We review the diagnosis and long-term clinical care of patients with Angelman syndrome.

Palavras-chave : Angelman syndrome; Chromosome 15q11-13; UBE3A; Child; Molecular imprinting.

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