Chromosome 18 aberrations and epilepsy: A review

S. Grosso, L. Pucci, R. M. Di Bartolo, G. Gobbi, G. Bartalini, C. Anichini, R. Scarinci, M. Balestri, M. A. Farnetani, M. Cioni, G. Morgese, P. Balestri

Research output: Contribution to journalArticlepeer-review


Epilepsy is commonly observed in patients with chromosomal aberrations. We evaluated epilepsy and electroencephalographic (EEG) features in a group of patients carrying aberrations of chromosome 18. Fourteen patients were recruited: five with an 18p deletion syndrome (18pDS); six with an 18q deletion syndrome (18qDS); two with trisomy 18p syndrome; and one with a 45,XY,t(17-18) (cen-q11.2) karyotype. Patients with 18pDS had neither epilepsy nor EEG anomalies; four patients with 18qDS had epilepsy with partial seizures occurring during infancy or early childhood. Partial seizures were also present in both patients with trisomy 18p. By contrast, mixed seizures were observed in the patient carrying a translocation between chromosomes 17 and 18. Our data and a re-evaluation of the literature suggest that epilepsy is infrequent in patients with 18pDS. Conversely, partial seizures and focal EEG anomalies may be observed in those with patients with 18qDS. Our observations suggest that the haplo-insufficiency of genes located on the long arm of chromosome 18 is more likely to be associated with epilepsy, than is haplo-insufficiency of genes located on the short arm. While further EEG/clinical investigations are needed to validate these observations, this study indicates a possible relationship between chromosome 18 genes and epilepsy.

Original languageEnglish
Pages (from-to)88-94
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume134 A
Issue number1
Publication statusPublished - Apr 1 2005


  • Chromosomal aberrations
  • Chromosomal rearrangement
  • Chromosome 18
  • Epilepsy
  • Mental retardation
  • Seizures

ASJC Scopus subject areas

  • Genetics(clinical)


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