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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
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.
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.
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.