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.

Translated title of the contributionRing chromosome 17 and epilepsy: Report of two brothers with different fenotype
Original languageItalian
Pages (from-to)176-178
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number144
Publication statusPublished - May 2012

ASJC Scopus subject areas

  • Clinical Neurology

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    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, (144), 176-178.