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Keywords:

  • epilepsy, seizures;
  • Martin-Bell syndrome;
  • medical genetics;
  • human chromosomes;
  • fragile-X syndrome;
  • X-linked mental retardation;
  • neurological diagnosis;
  • EEG

Abstract

In this paper, we describe a study aiming at establishing the prevalence, specificity, and the sensitivity of a characteristic sleep EEG pattern in patients with Martin-Bell syndrome, in comparison with a sample of etiologically different mentally retarded patients. The estimation of the prevalence (11% among the total sample), the specificity, and the sensitivity, allows us to propose this pattern as an important “marker”, useful in the diagnosis of the Martin-Bell syndrome.