Partial seizures with focal epileptogenic electroencephalographic patternsin three related female patients with fragile-X syndrome

Epilepsy and abnormal electroencephalographic (EEG) patterns have been repo rted in mentally retarded males with fragile-X syndrome, but the high incid ence of epilepsy in such persons has been recognized only recently. These i ndividuals have focal spikes in the EEG similar to the benign rolandic patt ern. Female carriers have very rarely been reported to have epilepsy or non specific abnormal EEG patterns. We report partial seizures with a focal epi leptogenic EEG pattern in two sisters and their grandmother, who are all ca rriers of fragile-X syndrome. The sisters have mild developmental delay, bu t the grandmother is of normal intelligence. The mother of the two sisters is known to be a carrier of the fragile-X chromosome and is of normal intel ligence, with no history of seizures. It is important for physicians to be aware of the possibility that females presenting with partial seizures of u nknown cause may be fragile-X carriers, and enquiry for a family history of intellectual disability should be pursued.