We report ten unrelated patients (5 M, 5 F) showing 6q terminal deletions and a peculiar clinical, EEG and neuroradiological picture constituted by epilepsy, mental retardation and colpocephaly. The electroclinical and neuroradiological features of this syndrome allow to suspect this condition and to correctly address the genetic investigations.
|Translated title of the contribution||6q terminal deletion: An emerging syndrome associated to a peculiar clinical and electroencephalographic picture|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2006|
ASJC Scopus subject areas
- Clinical Neurology