Epilessia focale con marcata attivazione delle anomalie EEG in sonno in paziente con Sindrome di Klinefelter e delezione 9q34

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

F. Ragona, E. Freri, I. De Giorgi, C. Zorzi, F. L. Sciacca, S. Brambilla, S. Binelli, T. Granata

Research output: Contribution to journalArticlepeer-review

Abstract

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 contributionFocal epilepsy with almost continuous epileptic discharges during sleep in a patient with Klinefelter's syndrome and chromosome 9q subtelomere deletion sindrome
Original languageItalian
Pages (from-to)104-105
Number of pages2
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number140
Publication statusPublished - Apr 2010

ASJC Scopus subject areas

  • Clinical Neurology

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