Differenti fenotipi epilettici associati a delezione e duplicazione del 2q24

M. Pezzella; M. Traverso; P. Ricciardelli; G. Gobbi; R. Falsaperla; P. Pavone; G. Prato; G. Tortorella; F. Zara; M. G. Baglietto; P. Striano

Differenti fenotipi epilettici associati a delezione e duplicazione del 2q24

Translated title of the contribution: Different epileptic phenotypes are associated to deletion and duplication of 2q24 chromosome

M. Pezzella, M. Traverso, P. Ricciardelli, G. Gobbi, R. Falsaperla, P. Pavone, G. Prato, G. Tortorella, F. Zara, M. G. Baglietto, P. Striano

Research output: Contribution to journal › Article › peer-review

Abstract

More than 100 cases have been reported of large deletions on long arm of chromosome 2 (2q), displaying rearrangements of various sizes and distribution, usually associated with a seizure phenotype ⁽¹⁾. Conversely, there are only 3 reports on epileptic patients carrying a 2q microduplication ^(2-4). The smallest commonly rearranged segment in these patients is the 2q24 band, which includes a cluster of alpha subunits of the voltage -gated sodium channels (SCN) genes. We report on the clinical and cytogenetic characterization of two deletions and one duplication involving the 2q24 band and discuss the genotype-epileptic phenotype correlations.

Translated title of the contribution	Different epileptic phenotypes are associated to deletion and duplication of 2q24 chromosome
Original language	Italian
Pages (from-to)	201-205
Number of pages	5
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	145
Publication status	Published - Apr 2013

ASJC Scopus subject areas

Clinical Neurology

Cite this

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title = "Differenti fenotipi epilettici associati a delezione e duplicazione del 2q24",

abstract = "More than 100 cases have been reported of large deletions on long arm of chromosome 2 (2q), displaying rearrangements of various sizes and distribution, usually associated with a seizure phenotype (1). Conversely, there are only 3 reports on epileptic patients carrying a 2q microduplication (2-4). The smallest commonly rearranged segment in these patients is the 2q24 band, which includes a cluster of alpha subunits of the voltage -gated sodium channels (SCN) genes. We report on the clinical and cytogenetic characterization of two deletions and one duplication involving the 2q24 band and discuss the genotype-epileptic phenotype correlations.",

keywords = "2q24, Chromosome abnormalities, EEG, Epilepsy, SCN gene cluster",

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language = "Italian",

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T1 - Differenti fenotipi epilettici associati a delezione e duplicazione del 2q24

AU - Pezzella, M.

AU - Traverso, M.

AU - Ricciardelli, P.

AU - Gobbi, G.

AU - Falsaperla, R.

AU - Pavone, P.

AU - Prato, G.

AU - Tortorella, G.

AU - Zara, F.

AU - Baglietto, M. G.

AU - Striano, P.

PY - 2013/4

Y1 - 2013/4

N2 - More than 100 cases have been reported of large deletions on long arm of chromosome 2 (2q), displaying rearrangements of various sizes and distribution, usually associated with a seizure phenotype (1). Conversely, there are only 3 reports on epileptic patients carrying a 2q microduplication (2-4). The smallest commonly rearranged segment in these patients is the 2q24 band, which includes a cluster of alpha subunits of the voltage -gated sodium channels (SCN) genes. We report on the clinical and cytogenetic characterization of two deletions and one duplication involving the 2q24 band and discuss the genotype-epileptic phenotype correlations.

AB - More than 100 cases have been reported of large deletions on long arm of chromosome 2 (2q), displaying rearrangements of various sizes and distribution, usually associated with a seizure phenotype (1). Conversely, there are only 3 reports on epileptic patients carrying a 2q microduplication (2-4). The smallest commonly rearranged segment in these patients is the 2q24 band, which includes a cluster of alpha subunits of the voltage -gated sodium channels (SCN) genes. We report on the clinical and cytogenetic characterization of two deletions and one duplication involving the 2q24 band and discuss the genotype-epileptic phenotype correlations.

KW - 2q24

KW - Chromosome abnormalities

KW - EEG

KW - Epilepsy

KW - SCN gene cluster

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Differenti fenotipi epilettici associati a delezione e duplicazione del 2q24

Abstract

ASJC Scopus subject areas

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