Gene Interactions and Modifiers in Epilepsy

Miriam H. Meisler and Janelle E. O'Brien

in Jasper's Basic Mechanisms of the Epilepsies

Fourth edition

Published on behalf of ©Jeffrey L. Noebels, Massimo Avoli, Michael A. Rogawski, Richard W. Olsen, and Antonio V. Delgado-Escueta

Published in print July 2012 | ISBN: 9780199746545
Published online April 2013 | e-ISBN: 9780199322817 | DOI:

Series: Contemporary Neurology Series

Gene Interactions and Modifiers in Epilepsy

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The genetic basis for most cases of human epilepsy remains unknown, in spite of recent successes in identifying the roles of SCN1A and related ion channels. This situation is likely to change dramatically in the near future with the introduction of individual genome sequencing. Using inexpensive, high-throughput next-generation sequencing technology, 〉90% of the 180,000 exons in the human genome can be sequenced from individual samples. The first few exomes published in 2009 and 2010 revealed that every human carries approximately 500 rare amino acid sequence variants not previously described. A spectrum of variation extends from benign variants without functional consequences to mutations causing significant loss of function. By revealing all of their genetic variants, genome sequencing of epilepsy patients will accelerate the discovery of primary disease genes as well as genetic modifiers. The urgent challenge will then be to recognize the subset of amino acid substitutions that change the function of the encoded protein. Functional assays to distinguish between benign and pathogenic variants will be an increasingly important component of epilepsy research in order to interpret the abundant genetic information. Identification of additional epilepsy genes and their genetic modifiers will provide new targets for intervention and should lead to more effective treatments for seizure disorders.

Chapter.  4407 words.  Illustrated.

Subjects: Neurology

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