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Related Experiment Videos

Chromosome 18 aberrations and epilepsy: a review.

S Grosso1, L Pucci, R M Di Bartolo

  • 1Department of Pediatrics, University of Siena, Siena, Italy.

American Journal of Medical Genetics. Part A
|February 4, 2005
PubMed
Summary

Epilepsy is infrequent in 18p deletion syndrome but may occur with partial seizures in 18q deletion syndrome. Chromosome 18 gene haplo-insufficiency on the long arm is linked to epilepsy.

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Area of Science:

  • Genetics
  • Neurology
  • Clinical Medicine

Background:

  • Epilepsy is frequently observed in individuals with chromosomal aberrations.
  • Chromosome 18 abnormalities are associated with various genetic disorders and potential neurological complications.

Purpose of the Study:

  • To investigate the prevalence and characteristics of epilepsy and electroencephalographic (EEG) anomalies in patients with chromosome 18 aberrations.
  • To explore the relationship between specific chromosome 18 deletions/aberrations and the occurrence of epilepsy.

Main Methods:

  • Evaluation of epilepsy and EEG findings in 14 patients with different chromosome 18 aberrations, including 18p deletion syndrome (18pDS) and 18q deletion syndrome (18qDS).
  • Review of existing literature on epilepsy in patients with chromosome 18 abnormalities.

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Main Results:

  • Patients with 18pDS showed no epilepsy or EEG anomalies.
  • Four out of six patients with 18qDS experienced epilepsy with partial seizures.
  • Partial seizures were also noted in trisomy 18p cases, while mixed seizures occurred in a patient with a 17-18 translocation.

Conclusions:

  • Epilepsy is uncommon in 18pDS, but partial seizures and focal EEG anomalies may be present in 18qDS.
  • Haplo-insufficiency of genes on chromosome 18's long arm (18q) appears more strongly associated with epilepsy than on the short arm (18p).
  • Further research is needed, but this study suggests a link between chromosome 18 genes and epilepsy development.