Chromosome Disorders Associated with Epileptic Seizures

  • Sameer M. Zuberi
Reference work entry

Short Description

Epilepsy is a feature of several hundred chromosome abnormalities. However, there are relatively few conditions in which epilepsy is a consistent feature and even fewer in which the electroclinical phenotype is recognizable ( Table 17-1). Advances in cytogenetics and molecular genetics are leading to the detection of more complex and smaller chromosomal rearrangements, duplications, and deletions (Singh et al. 2002; Dibbens et al. 2009). This will provide new challenges for the epilepsy specialist, who in partnership with the geneticist, will have to judge the clinical relevance of these abnormalities. Most chromosome anomalies associated with epilepsy are individually rare; therefore, clinicians must continue to collaborate to describe novel electroclinical phenotypes.
Table 17-1

Chromosome disorders consistently associated with epilepsy

Disorders consistently associated with epilepsy

Estimated incidence


Terminal deletion chromosome 1p36

1 in 5,000




Learning Disability Dysmorphic Feature Infantile Spasm Angelman Syndrome Epileptic Encephalopathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



I would like to acknowledge the staff in the EEG Department and the Cytogenetics Department, Duncan Guthrie Institute of Medical Genetics in the Royal Hospital for Sick Children, Glasgow, as well as Dr John Tolmie, Dr Paul Eunson, Dr Stewart Macleod, and Dr Mary O’Regan for their help in preparing this manuscript.


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Copyright information

© Springer-Verlag London Limited 2010

Authors and Affiliations

  • Sameer M. Zuberi
    • 1
  1. 1.Fraser of Allander Neurosciences UnitRoyal Hospital for Sick ChildrenYorkhillGlasgowUnited Kingdom

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