Epilepsy and fragile X syndrome: A follow-up study

S. A. Musumeci, R. Ferri, M. Elia, R. M. Colognola, P. Bergonzi, C. A. Tassinari

Research output: Contribution to journalArticlepeer-review


This paper describes EEG and clinical findings resulting from a follow-up investigation in a group of 18 males with fragile X syndrome, in whom a characteristic paroxysmal EEG pattern was previously described. The following types of evolution were observed: (1) disappearance of the pattern (with a gradual lowering of the amplitude of spikes and in some cases with asynchrony between the two hemispheres); (2) disappearance of the quasi-rhythmic centrotemporal spikes and persistence of bisynchronous polyspike and wave complexes in the temporo-parieto-frontal regions; and (3) persistence of the previously observed pattern. These results confirm the already observed similarity between this condition and the benign childhood epilepsy with centrotemporal spikes, also from the maturational point of view; on the other hand, they also indicate some difference (i.e., mental retardation, slow background EEG activity, brain atrophy). Moreover, these findings are encouraging for the possible development of research in the field of molecular genetics in epilepsy, because they provide a precise site of investigation on the X chromosome.

Original languageEnglish
Pages (from-to)511-513
Number of pages3
JournalAmerican Journal of Medical Genetics
Issue number2-3
Publication statusPublished - 1991


  • EEG
  • epilepsy
  • fragile X syndrome
  • molecular genetics

ASJC Scopus subject areas

  • Genetics(clinical)


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