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

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

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 › peer-review

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 contribution	6q terminal deletion: An emerging syndrome associated to a peculiar clinical and electroencephalographic picture
Original language	Italian
Pages (from-to)	101-102
Number of pages	2
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	133-134
Publication status	Published - 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.

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 › peer-review

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. ; 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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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.",

keywords = "Cromosomopathy, Epilepsy, FISH, Mental retardation, Subtelomeric deletions",

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

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T1 - La 6q terminal deletion realizza una sindrome elettroclinica e neuroradiologica peculiare

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.

PY - 2006/7

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N2 - 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.

AB - 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.

KW - Cromosomopathy

KW - Epilepsy

KW - FISH

KW - Mental retardation

KW - Subtelomeric deletions

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

Abstract

ASJC Scopus subject areas

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