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Strategies for Studying the Epilepsy Genome.

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Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

Excerpt

Current leading theories on the etiology of the group of diseases called epilepsy implicate both genes and factors in the environment. Genetic research has the potential to identify molecular and cellular mechanisms that can be targeted directly for therapeutic intervention. Although nearly two decades have passed since the discovery of the first epilepsy-causing gene mutation1 and mutations in about a dozen other human genes are now well-characterized,2,3 the vast majority of genetic variation that contributes to the development of epilepsy is undiscovered. Thus, there is a critical need to continue to elucidate the epilepsy genome. This chapter will review comprehensive, genome-wide approaches that are being used to achieve this goal.

Copyright © 2012, Michael A Rogawski, Antonio V Delgado-Escueta, Jeffrey L Noebels, Massimo Avoli and Richard W Olsen.

PMID:
22787657
[PubMed]
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