Epilessia generalizzata sintomatica in due fratelli con fenotipo Bardet-Biedl-like

Translated title of the contribution: Symptomatic generalized epilepsy in two brothers with phenotype Bardet-Biedl syndrome-like

C. Ciampa, A. Coppola, L. Del Gaudio, L. Santulli, M. Pezzella, F. Zara, P. Striano, S. Striano

Research output: Contribution to journalArticle

Abstract

Bardet-Biedl syndrome (BBS) is a genetic autosomal-recessive ciliopathy causing multivisceral abnormalities. Its prevalence in Europe is from 1:125000 to 1:175000. The presence of at least four major clinical criteria, or 3 major and 2 minor clinical criteria establish the diagnosis. The phenotype of this syndrome has highly variable expression and is associated with a large genetic heterogeneity. To date, 14 BBS genes have been identified, which code for proteins involved in the ciliogenesis. Here we report two siblings with a BBS-like phenotype who were born from non-consanguineous parents. The molecular analysis in the genes so far investigated was negative. We emphasize that both siblings have a generalized epilepsy, a feature that has been never described in association with BBS.

Original languageItalian
Pages (from-to)97-100
Number of pages4
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number144
Publication statusPublished - May 2012

Fingerprint

Bardet-Biedl Syndrome
Generalized Epilepsy
Phenotype
Genetic Heterogeneity
Genes
Proteins

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Ciampa, C., Coppola, A., Del Gaudio, L., Santulli, L., Pezzella, M., Zara, F., ... Striano, S. (2012). Epilessia generalizzata sintomatica in due fratelli con fenotipo Bardet-Biedl-like. Bollettino - Lega Italiana contro l'Epilessia, (144), 97-100.

Epilessia generalizzata sintomatica in due fratelli con fenotipo Bardet-Biedl-like. / Ciampa, C.; Coppola, A.; Del Gaudio, L.; Santulli, L.; Pezzella, M.; Zara, F.; Striano, P.; Striano, S.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 144, 05.2012, p. 97-100.

Research output: Contribution to journalArticle

Ciampa, C, Coppola, A, Del Gaudio, L, Santulli, L, Pezzella, M, Zara, F, Striano, P & Striano, S 2012, 'Epilessia generalizzata sintomatica in due fratelli con fenotipo Bardet-Biedl-like', Bollettino - Lega Italiana contro l'Epilessia, no. 144, pp. 97-100.
Ciampa C, Coppola A, Del Gaudio L, Santulli L, Pezzella M, Zara F et al. Epilessia generalizzata sintomatica in due fratelli con fenotipo Bardet-Biedl-like. Bollettino - Lega Italiana contro l'Epilessia. 2012 May;(144):97-100.
Ciampa, C. ; Coppola, A. ; Del Gaudio, L. ; Santulli, L. ; Pezzella, M. ; Zara, F. ; Striano, P. ; Striano, S. / Epilessia generalizzata sintomatica in due fratelli con fenotipo Bardet-Biedl-like. In: Bollettino - Lega Italiana contro l'Epilessia. 2012 ; No. 144. pp. 97-100.
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