Chapter

Genetic Epidemiology and Gene Discovery in Epilepsy

Ruth Ottman and Neil Risch

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: http://dx.doi.org/10.1093/med/9780199746545.003.0050

Series: Contemporary Neurology Series

Genetic Epidemiology and Gene Discovery in Epilepsy

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Over the last two decades, more than 20 genes with a major effect on the risk for human epilepsy have been identified, providing important clues to pathogenic mechanisms and enabling some patients to discover the cause of their disorder.1 However, the genes identified so far affect risk in a very small proportion of patients—primarily those from families consistent with Mendelian modes of inheritance. Most epilepsies occur in the absence of a significant family history, and identifying and characterizing the genetic mechanisms in these complex epilepsies is a major challenge for the next decade.2 Here we discuss the meaning of complex inheritance as it applies to epilepsy, findings from current research, and approaches likely to be advantageous for gene identification in these forms of epilepsy.

Chapter.  7612 words. 

Subjects: Neurology

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