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Epilepsy in fragile X syndrome
1Department of Pediatrics, RUSH-Presbyterian-St Luke's Medical Center, Chicago, IL 60612, USA. Elizabeth_M_Berry-Kravis@rush.edu
Developmental Medicine and Child Neurology
|November 7, 2002
Summary
Epilepsy affects up to 20% of individuals with fragile X syndrome (FXS). The most common seizure type resembles benign focal epilepsy of childhood (BFEC) and often resolves in childhood.
Area of Science:
- Neurology
- Genetics
- Epileptology
Background:
- Epilepsy is a common comorbidity in fragile X syndrome (FXS), affecting 10-20% of individuals.
- A specific seizure and EEG pattern in FXS often mimics benign focal epilepsy of childhood (BFEC).
Purpose of the Study:
- To investigate the frequency and characteristics of seizures in a cohort of individuals with FXS.
- To analyze EEG findings and their correlation with seizure activity in FXS.
- To determine the epilepsy syndrome and prognosis in FXS patients.
Main Methods:
- Retrospective review of seizure history in 136 individuals with FXS (ages 2-51).
- Analysis of EEG data for individuals with and without seizures.
- Classification of seizure types and epilepsy syndromes.
Main Results:
- Seizures occurred in 13.3% of males and 4.8% of females with FXS.
- Partial seizures were most common (12/16 individuals with seizures).
- Centrotemporal spikes were the most frequent epileptiform abnormality on EEG, particularly in individuals with seizures.
Conclusions:
- The most prevalent seizure syndrome in FXS resembles BFEC, which has a favorable prognosis for remission.
- FMRP deficiency in FXS may contribute to neuronal hyperexcitability and epilepsy, specifically promoting the BFEC pattern.