La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare

Translated title of the contribution: 6q terminal deletion: An emerging syndrome associated to a peculiar clinical and electroencephalographic picture

P. Striano, A. Coppola, R. Gaggero, M. Mancardi, E. Nicolella, L. Errichiello, L. Castiglia, O. Galesi, M. Malacarne, M. Pierluigi, C. Amato, M. M. Rinaldi, M. Pintaudi, S. A. Musumeci, S. Majore, P. Grammatico, M. Fichera, F. Faravelli, S. Striano, M. Elia

Research output: Contribution to journal › Article

Abstract

We report ten unrelated patients (5 M, 5 F) showing 6q terminal deletions and a peculiar clinical, EEG and neuroradiological picture constituted by epilepsy, mental retardation and colpocephaly. The electroclinical and neuroradiological features of this syndrome allow to suspect this condition and to correctly address the genetic investigations.

Original languageItalian
Pages (from-to)101-102
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number133-134
Publication statusPublished - Jul 2006

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Intellectual Disability
Electroencephalography
Epilepsy
Monosomy 6q Chromosome 6
Colpocephaly

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare. / Striano, P.; Coppola, A.; Gaggero, R.; Mancardi, M.; Nicolella, E.; Errichiello, L.; Castiglia, L.; Galesi, O.; Malacarne, M.; Pierluigi, M.; Amato, C.; Rinaldi, M. M.; Pintaudi, M.; Musumeci, S. A.; Majore, S.; Grammatico, P.; Fichera, M.; Faravelli, F.; Striano, S.; Elia, M.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 133-134, 07.2006, p. 101-102.

Research output: Contribution to journal › Article

Striano, P, Coppola, A, Gaggero, R, Mancardi, M, Nicolella, E, Errichiello, L, Castiglia, L, Galesi, O, Malacarne, M, Pierluigi, M, Amato, C, Rinaldi, MM, Pintaudi, M, Musumeci, SA, Majore, S, Grammatico, P, Fichera, M, Faravelli, F, Striano, S & Elia, M 2006, 'La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare', Bollettino - Lega Italiana contro l'Epilessia, no. 133-134, pp. 101-102.
Striano P, Coppola A, Gaggero R, Mancardi M, Nicolella E, Errichiello L et al. La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare. Bollettino - Lega Italiana contro l'Epilessia. 2006 Jul;(133-134):101-102.
Striano, P. ; Coppola, A. ; Gaggero, R. ; Mancardi, M. ; Nicolella, E. ; Errichiello, L. ; Castiglia, L. ; Galesi, O. ; Malacarne, M. ; Pierluigi, M. ; Amato, C. ; Rinaldi, M. M. ; Pintaudi, M. ; Musumeci, S. A. ; Majore, S. ; Grammatico, P. ; Fichera, M. ; Faravelli, F. ; Striano, S. ; Elia, M. / La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare. In: Bollettino - Lega Italiana contro l'Epilessia. 2006 ; No. 133-134. pp. 101-102.
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AU - Striano, P.

AU - Coppola, A.

AU - Gaggero, R.

AU - Mancardi, M.

AU - Nicolella, E.

AU - Errichiello, L.

AU - Castiglia, L.

AU - Galesi, O.

AU - Malacarne, M.

AU - Pierluigi, M.

AU - Amato, C.

AU - Rinaldi, M. M.

AU - Pintaudi, M.

AU - Musumeci, S. A.

AU - Majore, S.

AU - Grammatico, P.

AU - Fichera, M.

AU - Faravelli, F.

AU - Striano, S.

AU - Elia, M.

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KW - Epilepsy

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KW - Subtelomeric deletions

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