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

Research output: Contribution to journalArticle

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.

Original languageItalian
Pages (from-to)176-178
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number144
Publication statusPublished - May 2012

Fingerprint

Epilepsy
Psychomotor Disorders
Occipital Lobe
Coffee
Neurologic Examination
Brain
Frontal Lobe
Milk
Seizures
Skin
Chromosome 17 ring

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Serpino, C., Francavilla, T., La Neve, A., Pezzella, M., Pietrafusa, N., Durante, V., ... Striano, P. (2012). Cromosoma 17 ad anello ed epilessia: Report di due fratelli con fenotipo clinico discordante. Bollettino - Lega Italiana contro l'Epilessia, (144), 176-178.

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 journalArticle

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 2012, 'Cromosoma 17 ad anello ed epilessia: Report di due fratelli con fenotipo clinico discordante', Bollettino - Lega Italiana contro l'Epilessia, no. 144, pp. 176-178.
Serpino C, Francavilla T, La Neve A, Pezzella M, Pietrafusa N, Durante V et al. Cromosoma 17 ad anello ed epilessia: Report di due fratelli con fenotipo clinico discordante. Bollettino - Lega Italiana contro l'Epilessia. 2012 May;(144):176-178.
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. / Cromosoma 17 ad anello ed epilessia : Report di due fratelli con fenotipo clinico discordante. In: Bollettino - Lega Italiana contro l'Epilessia. 2012 ; No. 144. pp. 176-178.
@article{e16f57c8f1c44784ae79e93adace978f,
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",
year = "2012",
month = "5",
language = "Italian",
pages = "176--178",
journal = "Bollettino - Lega Italiana contro l'Epilessia",
issn = "0394-560X",
publisher = "Lega Italiana contro l'Epilessia",
number = "144",

}

TY - JOUR

T1 - Cromosoma 17 ad anello ed epilessia

T2 - Report di due fratelli con fenotipo clinico discordante

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.

PY - 2012/5

Y1 - 2012/5

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

UR - http://www.scopus.com/inward/record.url?scp=84887222547&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84887222547&partnerID=8YFLogxK

M3 - Articolo

AN - SCOPUS:84887222547

SP - 176

EP - 178

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

IS - 144

ER -