Electroencephalographic and epileptic patterns in X chromosome anomalies

Salvatore Grosso, Mariangela A. Farnetani, Rosanna Maria Di Bartolo, Rosario Berardi, Lucia Pucci, Rosa Mostardini, Cecilia Anichini, Gabriella Bartalini, Daniela Galimberti, Guido Morgese, Paolo Balestri

Research output: Contribution to journalArticlepeer-review


Although epilepsy and mental retardation are commonly observed in individuals with chromosomal aberrations, the identification of EEG/epileptic profiles in those with specific chromosome anomalies remains difficult. A few syndromes seem to show peculiar clinical and EEG associations. The authors report an electroclinical investigation on a group of patients carrying X chromosome anomalies: 16 patients with Turner's syndrome, 17 with Klinefelter's syndrome, 1 with an X-autosomal rearrangement, 2 with Xq isochromosome [Xq(i)], and 7 with triple X syndrome. Epilepsy and/or EEG anomalies were found in three of the patients with Klinefelter's syndrome, in one patient with an X-autosomal rearrangement, and in five of those with triple X syndrome. No epilepsy or EEG anomalies were detected in the other patients. Epilepsy may be associated with Klinefelter's syndrome. In addition, the authors found that an electroclinical pattern, represented by paroxysmal activity in the posterior regions (temporo-parieto-occipital areas) with complex partial seizures and easily controlled by antiepileptic drugs, may be present in patients with triple X syndrome. In contrast, gross X-autosomal rearrangements are associated with polymorphic EEG/epileptic findings. Although further studies are needed to validate these observations, they clearly confirm the strict relationship between X chromosome anomalies and epilepsy.

Original languageEnglish
Pages (from-to)249-253
Number of pages5
JournalJournal of Clinical Neurophysiology
Issue number4
Publication statusPublished - 2004


  • Epilepsy
  • Klinefelter's syndrome
  • Mental retardation
  • Seizures
  • Triple X syndrome
  • Turner's syndrome
  • X chromosome aberration

ASJC Scopus subject areas

  • Clinical Neurology
  • Physiology
  • Neuroscience(all)


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