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 |
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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