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Epilepsy: Beyond the single nucleotide variant in epilepsy genetics

Ingrid E Scheffer1, Heather C Mefford2

  • 1Epilepsy Research Centre, Department of Medicine, University of Melbourne, The Florey, Austin Health, 245 Burgundy Street, Heidelberg, Melbourne 3084, Australia.

Nature Reviews. Neurology
|August 13, 2014
PubMed
Summary

Copy number variants (CNVs) are significant causes of human disease. A recent study found pathogenic CNVs in 5% of epilepsy patients, though interpreting their impact remains complex.

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