This is the case of a young, 22 year-old woman, who has, since childhood, suffered from drug resistant epilepsy with critical EEG pattern and symptoms suggesting a frontal mesial lobe epilepsy (possibly right). Daughter of an epileptic woman with temporal lobe epilepsy, she also presents several dysmorphisms and slight mental retardation. An analysis of the patient's karyotype was performed on the lymphocytes obtained from peripheral blood (GTC and RHG bands) which revealed the deletion of the long arm of the X chromosome (46,XX, del (X) (q27→qter)). Repeated MRI of the brain, in particular of the front lobes, were normal. The issue is whether or not there is a relationship between chromosome abnormalities and epilepsy.
|Translated title of the contribution||Epilepsy with chromosomal abnormalities. A case report with deletion of long arm of the X chromosome: Association or occasional finding?|
|Number of pages||4|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 2005|
ASJC Scopus subject areas
- Clinical Neurology