Variabilità clinica, in particolare riguardo all'epilessia, in pazienti affetti da Sindrome di Angelman con differenti anomalie genetiche nella regione 15q11-q13

Translated title of the contribution: The clinical Angelman Syndrome phenotype spectrum, with particular attention to the epilepsy, in patients with different genetic abnormalities at the 15q11-q13 region

A. Arbizzani, M. C. Scaduto, A. Posar, G. Barcia, S. Sangiorgi, M. Santucci

Research output: Contribution to journalArticlepeer-review

Abstract

Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe developmental delay, iperkinetic movement disorder,a happy and sociable disposition and profound speech impairment. Four genetic mechanisms are known leading to AS. We describe 5 patients with AS and different genetic abnormalities at the 15q11-13 region: 15q11-q13 maternal deletion (1) and 15q11.2 microdeletion (1), uniparental disomy paternal -UDP (1), imprinting defects-ID (1) and UBE3A gene mutation (1). The genotype-phenotype correlation detects a phenotypic spectrum, from the patient with deletion more seriously affected to the UDP and ID cases with milder phenotype. The patient with the 15q11.2 microdeletion shows atypical clinical features of a Pervasive Developmental Disorder Non Otherwise Specified (PDD-NOS) and a characteristic EEG pattern of "notched delta". We confirm both the phenotypic spectrum related to the different genetic classes of AS and the "notched delta" pattern EEG as a meaningful detection tool for AS also in atypical phenotype.

Translated title of the contributionThe clinical Angelman Syndrome phenotype spectrum, with particular attention to the epilepsy, in patients with different genetic abnormalities at the 15q11-q13 region
Original languageItalian
Pages (from-to)89-91
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number138
Publication statusPublished - 2008

ASJC Scopus subject areas

  • Clinical Neurology

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