Epilepsy in fragile X syndrome

Dev Med Child Neurol. 2002 Nov;44(11):724-8. doi: 10.1017/s0012162201002833.

Abstract

Epilepsy is reported to occur in 10 to 20% of individuals with fragile X syndrome (FXS). A frequent seizure/EEG pattern in FXS appears to resemble that of benign focal epilepsy of childhood (BFEC, benign rolandic epilepsy). To evaluate seizure frequency and type in a Chicago FXS cohort, data regarding potential seizure history were reviewed for 136 individuals with FXS (age range 2 to 51 years: 113 males and 23 females). Seizures occurred in 15 males (13.3%) and one female (4.8%): of these, 12 had partial seizures. EEG findings were available for 35 individuals (13 of 16 with seizures and 22 of 120 without seizures) and showed an epileptiform abnormality in 10 (77%) individuals with seizures and five (23%) individuals without seizures--the most common epileptiform pattern being centrotemporal spikes. Seizures were easily controlled in 14 of the 16 individuals with seizures. Many individuals, including all with centrotemporal spikes, had remission of seizures in childhood. The most common seizure syndrome resembled BFEC and this pattern had the best prognosis for epilepsy remission. Deficiency of FMRP (fragile X mental retardation protein) appears to lead to increased neuronal excitability and susceptibility to epilepsy, but particularly seems to facilitate mechanisms leading to the BFEC pattern.

MeSH terms

  • Adolescent
  • Adult
  • Anticonvulsants / therapeutic use
  • Child
  • Child, Preschool
  • Electroencephalography / drug effects
  • Epilepsies, Partial / diagnosis
  • Epilepsies, Partial / drug therapy
  • Epilepsies, Partial / genetics*
  • Epilepsy, Generalized / diagnosis
  • Epilepsy, Generalized / drug therapy
  • Epilepsy, Generalized / genetics*
  • Epilepsy, Rolandic / diagnosis
  • Epilepsy, Rolandic / drug therapy
  • Epilepsy, Rolandic / genetics
  • Female
  • Follow-Up Studies
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / drug therapy
  • Fragile X Syndrome / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Nerve Tissue Proteins / deficiency
  • Nerve Tissue Proteins / genetics
  • RNA-Binding Proteins*
  • Treatment Outcome

Substances

  • Anticonvulsants
  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein