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Article

Angelman syndrome due to a novel splicing mutation of the UBE3A gene.

Journal of child neurology - 1 Aug 2008

Sartori Stefano, Anesi Laura, Polli Roberta, Toldo Irene, Casarin Alberto, Drigo Paola, Murgia Alessandra

Abstract excerpt

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, absence of speech, seizures, abnormal electroencephalography (EEG), and happy disposition. The syndrome results from lack of function of the maternal copy of the UBE3A gene on the imprinted Prader-Willi/Angelm...

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Source

Identifiers

PMID: 18487518
DOI: 10.1177/0883073808316367

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18487518-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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