Caratteristiche elettrocliniche di due famiglie con delezione 15q13.3

Translated title of the contribution: Elettroclinical findings in two families with 15q13.3 deletion

A. Coppola, I. Bagnasco, M. Traverso, L. Del Gaudio, L. Santulli, C. Caccavale, P. Vigliano, S. Striano, F. Zara, P. Striano

Research output: Contribution to journalArticle

Abstract

15q.13.3 microdeletion has been described in a variety of neurodevelopmental disorders including intellectual disability, autism, schizophrenia and epilepsy[1-6]. Among these epilepsy appears to be a common feature and specifically, 15q13.3 is found in up to 1% of patients with idiopathic generalized epilepsy[7-9]. Recently absence seizures with intellectual disability have been reported as phenotype of the 15q13.3 microdeletion syndrome [10]. Here we describe two families with different members carrying the mutation. The phenotype of the affected members mainly includes absences and a slight mental disability suggesting similarities with generalized genetic epilepsies but not a complete overlapping. The importance of studying such families is crucial to broaden the phenotype and understand the clinical course over the years of these microdeletions syndrome.

Original languageItalian
Pages (from-to)195-198
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number145
Publication statusPublished - Apr 2013

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Phenotype
Intellectual Disability
Epilepsy
Absence Epilepsy
Generalized Epilepsy
Autistic Disorder
Schizophrenia
Mutation
Chromosome 15q13.3 Microdeletion Syndrome
Neurodevelopmental Disorders
Idiopathic Generalized Epilepsy

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Coppola, A., Bagnasco, I., Traverso, M., Del Gaudio, L., Santulli, L., Caccavale, C., ... Striano, P. (2013). Caratteristiche elettrocliniche di due famiglie con delezione 15q13.3. Bollettino - Lega Italiana contro l'Epilessia, (145), 195-198.

Caratteristiche elettrocliniche di due famiglie con delezione 15q13.3. / Coppola, A.; Bagnasco, I.; Traverso, M.; Del Gaudio, L.; Santulli, L.; Caccavale, C.; Vigliano, P.; Striano, S.; Zara, F.; Striano, P.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 145, 04.2013, p. 195-198.

Research output: Contribution to journalArticle

Coppola, A, Bagnasco, I, Traverso, M, Del Gaudio, L, Santulli, L, Caccavale, C, Vigliano, P, Striano, S, Zara, F & Striano, P 2013, 'Caratteristiche elettrocliniche di due famiglie con delezione 15q13.3', Bollettino - Lega Italiana contro l'Epilessia, no. 145, pp. 195-198.
Coppola A, Bagnasco I, Traverso M, Del Gaudio L, Santulli L, Caccavale C et al. Caratteristiche elettrocliniche di due famiglie con delezione 15q13.3. Bollettino - Lega Italiana contro l'Epilessia. 2013 Apr;(145):195-198.
Coppola, A. ; Bagnasco, I. ; Traverso, M. ; Del Gaudio, L. ; Santulli, L. ; Caccavale, C. ; Vigliano, P. ; Striano, S. ; Zara, F. ; Striano, P. / Caratteristiche elettrocliniche di due famiglie con delezione 15q13.3. In: Bollettino - Lega Italiana contro l'Epilessia. 2013 ; No. 145. pp. 195-198.
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