We present a 21-year-old male patient with dysmorphisms, mental retardation and epilepsy, with seizures partially controlled by therapy. Array-CGH (comparative genomic hybridization) showed a 525 Kb deletion in 16p11.2. We describe this case with the aim to contribute to define the epileptic phenotype associated with this copy number variant.
|Translated title of the contribution||Epileptic phenotype associated with a 16p11.2 microdeletion: Description of a case|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2013|
ASJC Scopus subject areas
- Clinical Neurology