title: Epilepsy and chromosomal abnormalities.
abstract: BACKGROUND
  Many chromosomal abnormalities are associated with Central Nervous System (CNS) malformations and other neurological alterations, among which seizures and epilepsy. Some of these show a peculiar epileptic and EEG pattern. We describe some epileptic syndromes frequently reported in chromosomal disorders.
  
  
  METHODS
  Detailed clinical assessment, electrophysiological studies, survey of the literature.
  
  
  RESULTS
  In some of these congenital syndromes the clinical presentation and EEG anomalies seems to be quite typical, in others the manifestations appear aspecific and no strictly linked with the chromosomal imbalance. The onset of seizures is often during the neonatal period of the infancy.
  
  
  CONCLUSIONS
  A better characterization of the electro clinical patterns associated with specific chromosomal aberrations could give us a valuable key in the identification of epilepsy susceptibility of some chromosomal loci, using the new advances in molecular cytogenetics techniques--such as fluorescent in situ hybridization (FISH), subtelomeric analysis and CGH (comparative genomic hybridization) microarray. However further studies are needed to understand the mechanism of epilepsy associated with chromosomal abnormalities.
authors.affiliation: Department of Pediatrics, Azienda Ospedaliera Universitaria Policlinico-Vittorio Emanuele, Università di Catania, Via Santa Sofia 78, Catania 95123, Italy. sorge@unict.it
authors.forename: Giovanni
authors.initials: G
authors.lastname: Sorge
authors.forename: Anna
authors.initials: A
authors.lastname: Sorge
mesh_terms: D002648:Child; D002869:Chromosome Aberrations; D004247:DNA / Q000032:analysis*; D003937:Diagnosis, Differential; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D015995:Prevalence
chemical_list: D004247:DNA