Cromosoma 17 ad anello ed epilessia: Report di due fratelli con fenotipo clinico discordante

C. Serpino; T. Francavilla; A. La Neve; M. Pezzella; N. Pietrafusa; V. Durante; G. Pontrelli; T. Lisi; M. Ladogana; P. Lamberti; G. Boero; P. Striano

Cromosoma 17 ad anello ed epilessia: Report di due fratelli con fenotipo clinico discordante

Translated title of the contribution: Ring chromosome 17 and epilepsy: Report of two brothers with different fenotype

C. Serpino, T. Francavilla, A. La Neve, M. Pezzella, N. Pietrafusa, V. Durante, G. Pontrelli, T. Lisi, M. Ladogana, P. Lamberti, G. Boero, P. Striano

Istituto "Giannina Gaslini"

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

Abstract

We describe two brothers with ring chromosome 17 presenting very different fenotypes. The first one is a 27 years-old female affected by refractory epilepsy, psychomotor impairment, dysmorphic features, milk and coffee skin spots; the brain MRI showed focal dysplasia in the right frontal lobe. Her brother is 11 years old and presented only one focal seizure; neurological and psychic examinations were normal; brain MRI showed leucomalacia in both occipital lobes.

Translated title of the contribution	Ring chromosome 17 and epilepsy: Report of two brothers with different fenotype
Original language	Italian
Pages (from-to)	176-178
Number of pages	3
Journal	Bollettino - Lega Italiana contro l'Epilessia
Issue number	144
Publication status	Published - May 2012

ASJC Scopus subject areas

Clinical Neurology

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Cromosoma 17 ad anello ed epilessia : Report di due fratelli con fenotipo clinico discordante. / Serpino, C.; Francavilla, T.; La Neve, A.; Pezzella, M.; Pietrafusa, N.; Durante, V.; Pontrelli, G.; Lisi, T.; Ladogana, M.; Lamberti, P.; Boero, G.; Striano, P.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 144, 05.2012, p. 176-178.

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

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title = "Cromosoma 17 ad anello ed epilessia: Report di due fratelli con fenotipo clinico discordante",

abstract = "We describe two brothers with ring chromosome 17 presenting very different fenotypes. The first one is a 27 years-old female affected by refractory epilepsy, psychomotor impairment, dysmorphic features, milk and coffee skin spots; the brain MRI showed focal dysplasia in the right frontal lobe. Her brother is 11 years old and presented only one focal seizure; neurological and psychic examinations were normal; brain MRI showed leucomalacia in both occipital lobes.",

keywords = "Epilepsy, Focal dysplasia, Ring chromosome 17",

author = "C. Serpino and T. Francavilla and {La Neve}, A. and M. Pezzella and N. Pietrafusa and V. Durante and G. Pontrelli and T. Lisi and M. Ladogana and P. Lamberti and G. Boero and P. Striano",

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month = may,

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AU - Serpino, C.

AU - Francavilla, T.

AU - La Neve, A.

AU - Pezzella, M.

AU - Pietrafusa, N.

AU - Durante, V.

AU - Pontrelli, G.

AU - Lisi, T.

AU - Ladogana, M.

AU - Lamberti, P.

AU - Boero, G.

AU - Striano, P.

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N2 - We describe two brothers with ring chromosome 17 presenting very different fenotypes. The first one is a 27 years-old female affected by refractory epilepsy, psychomotor impairment, dysmorphic features, milk and coffee skin spots; the brain MRI showed focal dysplasia in the right frontal lobe. Her brother is 11 years old and presented only one focal seizure; neurological and psychic examinations were normal; brain MRI showed leucomalacia in both occipital lobes.

AB - We describe two brothers with ring chromosome 17 presenting very different fenotypes. The first one is a 27 years-old female affected by refractory epilepsy, psychomotor impairment, dysmorphic features, milk and coffee skin spots; the brain MRI showed focal dysplasia in the right frontal lobe. Her brother is 11 years old and presented only one focal seizure; neurological and psychic examinations were normal; brain MRI showed leucomalacia in both occipital lobes.

KW - Epilepsy

KW - Focal dysplasia

KW - Ring chromosome 17

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Cromosoma 17 ad anello ed epilessia: Report di due fratelli con fenotipo clinico discordante

Abstract

ASJC Scopus subject areas

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