Epilepsy with benign course or age-dependent epileptic encephalopathies are common in chromosomal abnormalities; epilepsy in Klinefelter's syndrome usually runs a benign course. The chromosome 9q subtelomeric deletion syndrome, caused by haploinsufficiency of EHMT1 gene, is characterized by severe mental retardation, hypotonia, brachi-microcephaly, specific dimorphisms, congenital heart defects and epilepsy; in this syndrome seizures are usually controlled with standard AED and may improve with age. We report a male patient with 47,XXY karyotype and terminal deletion of chromosome 9q34.3. The boy suffered by epileptic encephalopathy: focal seizures and subcontinuous epileptic discharges during sleep were concomitant with language regression. The mother and the young sister, now aged 6 months, carried the same 9q34.3 deletion; the mother never experienced seizures and only has mild cognitive deficit. The description of this family contributes to the delineation of the 9q deletion electroclinical phenotype.
|Translated title of the contribution||Focal epilepsy with almost continuous epileptic discharges during sleep in a patient with Klinefelter's syndrome and chromosome 9q subtelomere deletion sindrome|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2010|
ASJC Scopus subject areas
- Clinical Neurology