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Genetically complex epilepsies, copy number variants and syndrome constellations

Heather C Mefford1, John C Mulley

  • 1Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 356320, Seattle, WA 98195, USA. hmefford@uw.edu.

Genome Medicine
|October 7, 2010
PubMed

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Recurrent seizures, stemming from abnormal electrical activity in the brain, are the defining characteristic of epilepsy, a chronic neurological condition. Because seizure features vary greatly, epilepsy is classified using two systems: by seizure type and by epilepsy syndromes. These classifications enable clinicians to describe seizure patterns and select suitable treatment strategies.I. Classification by Seizure Type1. Focal EpilepsyFocal epilepsy begins in one hemisphere of the brain.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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