Epilepsy and EEG Findings in Males with Fragile X Syndrome


Address correspondence and reprint requests to Dr. S. A. Musumeci at Oasi Institute for Research on Mental Retardation and Brain Aging, Via C. Ruggero, 73, I-94018 Troina (EN), Italy.


Summary: Purpose and Methods: One hundred and ninety-two fragile X male patients were investigated for seizures and EEG findings, 168 in a retrospective and 24 in another prospective study, to characterize the natural history of seizures, epilepsy, and EEG abnormalities in males with this syndrome.

Results: Seizures were documented in 35 (18.2%) of 192 patients; they never started before the age of 2 years or after the age of 9 years. Seizures were frequently of the complex partial type and less frequently of the partial motor and generalized type. Seizures involving frontal and temporal lobes were commonly seen and were usually well controlled by anticonvulsants. In the majority of young fragile X patients studied, an age-related paroxysmal EEG pattern was found, which showed neurophysiologic characteristics very similar to those of the centrotemporal spikes.

Conclusions: These findings confirm that fragile X syndrome can be considered a genetic model of epilepsy.