Chromosomal disorders associated with epilepsy

Agatino Battaglia, Renzo Guerrini

Research output: Contribution to journalArticlepeer-review


Epilepsy is among the most common findings associated with chromosome aberrations, particularly those involving autosomal chromosome imbalances. Most chromosome aberrations can be associated with different seizure types, but there are a few aberrations featuring specific seizure and electroencephalographic (EEG) patterns. The analysis of electro-clinical patterns associated with chromosomal aberrations is a major tool in the identification of epilepsy susceptibility genes. Advances in molecular cytogenetic techniques will certainly increase the diagnostic yield, and an increasing number of individuals previously diagnosed as having "cryptogenic" epilepsy will turn out to have an underlying chromosomal aberration. We review the types of seizures, EEC findings, and their natural history in the chromosomal disorders that are consistently associated with epilepsy.

Original languageEnglish
Pages (from-to)181-192
Number of pages12
JournalEpileptic Disorders
Issue number3
Publication statusPublished - Sep 2005


  • Chromosomal disorders
  • Epilepsy
  • Malformation syndromes
  • Seizures

ASJC Scopus subject areas

  • Clinical Neurology


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