We examined by array-CGH 53 epileptic patients with unknown aetiology. All the patients showed intellectual disability, in several cases dysmorphic and neuropsychiatric features were also present. Furthermore, 38 parents (of 19 patients) were investigated. In 19 patients 23 copy number variations (CNVs) were identified, all rare except one recurrent (16p13.11 duplication). At the moment only 4 CNVs are de novo (in few cases analysis has to be completed). The clinical significance of the inherited CNVs, found in 11 of our cases, is still an open issue.
|Translated title of the contribution||Array-CGH data in epileptic patients with unknown aetiology and intellectual disability|
|Number of pages||4|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2013|
ASJC Scopus subject areas
- Clinical Neurology