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 journalArticle

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.

Original languageItalian
Pages (from-to)89-91
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number138
Publication statusPublished - 2008

Fingerprint

Angelman Syndrome
Epilepsy
Phenotype
Uridine Diphosphate
Electroencephalography
Uniparental Disomy
Movement Disorders
Genetic Association Studies
Mothers
Mutation
Genes

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

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title = "Variabilit{\`a} clinica, in particolare riguardo all'epilessia, in pazienti affetti da Sindrome di Angelman con differenti anomalie genetiche nella regione 15q11-q13",
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.",
keywords = "Angelman syndrome, Epilepsy, Genotype, Pattern EEG, Phenotype",
author = "A. Arbizzani and Scaduto, {M. C.} and A. Posar and G. Barcia and S. Sangiorgi and M. Santucci",
year = "2008",
language = "Italian",
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journal = "Bollettino - Lega Italiana contro l'Epilessia",
issn = "0394-560X",
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AU - Arbizzani, A.

AU - Scaduto, M. C.

AU - Posar, A.

AU - Barcia, G.

AU - Sangiorgi, S.

AU - Santucci, M.

PY - 2008

Y1 - 2008

N2 - 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.

AB - 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.

KW - Angelman syndrome

KW - Epilepsy

KW - Genotype

KW - Pattern EEG

KW - Phenotype

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