Review

Epilepsy and chromosomal abnormalities

Giovanni Sorge^* and Anna Sorge

• * Corresponding author: Giovanni Sorge sorge@unict.it

Author Affiliations

Department of Pediatrics, Azienda Ospedaliera Universitaria "Policlinico - Vittorio Emanuele", Università di Catania, Via Santa Sofia 78, Catania 95123, Italy

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Italian Journal of Pediatrics 2010, 36:36 doi:10.1186/1824-7288-36-36

Published: 3 May 2010

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.