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 journalArticle

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.

Translated title of the contribution6q terminal deletion: An emerging syndrome associated to a peculiar clinical and electroencephalographic picture
Original languageItalian
Pages (from-to)101-102
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number133-134
Publication statusPublished - Jul 2006

ASJC Scopus subject areas

  • Clinical Neurology

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    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. (2006). La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare. Bollettino - Lega Italiana contro l'Epilessia, (133-134), 101-102.