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.

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

ARBIZZANI, ANNALISA;SCADUTO, MARIA CRISTINA;POSAR, ANNIO;BARCIA, GIULIA;SANGIORGI, SIMONETTA;SANTUCCI, MARGHERITA
2009

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.
2009
Aggiornamenti in Epilettologia 2008. Atti del 31° Congresso Nazionale
89
91
A.Arbizzani; M.C.Scaduto; A.Posar; G.Barcia; S.Sangiorgi; M.Santucci
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/73107
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