Fifty percent of pediatric patients affected by epilepsy in association with multiple congenital abnormalities, has a chromosome defect. CGH array, a recent cariotype analysis technique, allows analyzing the entire genome at the same time with high specificity. In this way, the individuation of chromosomal abnormalities is possible even in clinical conditions not recognizable as already known syndromes. We describe a case of drug resistant epilepsy with myoclonic seizures and photosensitivity, associated with dysmorphic features and vermis hypoplasia, in which a deletion of the terminal portion of chromosome 15 has been detected.
|Translated title of the contribution||Photosensitive drug-resistant epilepsy with myoclonic seizures associated with chromosome 15q 26.1-26.2 deletion: Case report|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - May 2008|
ASJC Scopus subject areas
- Clinical Neurology