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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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.