We report a 13-yr-old girl with ch 2 q32.1-q33.1 deletion detected by micro-array CGH. She has mental retardation, mild epilepsy with partial szrs, cleft palate, multiple dysmorphic aspects, prevailing on the face. EEG shows multifocal paroxysmals and CSWSS-like abnormalities during sleep; MRI: partial agenesia of corpus callosum and of other inter-hemispheric structures. Among the deleted genes, the STAB2 located 2q32.1 is relevant, because it controls both the formation of the face bones and the directions of cortical projections towards contra-lateral hemisphere. So, the STAB2 deletion appears to be correlated with the developmental abnormalities of this patient.
|Translated title of the contribution||Epilepsy and cerebral developmental anomalies associated with ch 2 q32.1-q33.1 deletion|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2011|
ASJC Scopus subject areas
- Clinical Neurology