Chapter

Major Susceptibility Genes for Common Idiopathic Epilepsies

Deb K. Pal and David A. Greenberg

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/9780199746545.003.0066

Series: Contemporary Neurology Series

Major Susceptibility Genes for Common Idiopathic Epilepsies

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Clinical observations confirm that the idiopathic epilepsies are neurodevelopmental disorders strongly influenced by genetic factors. Genetic epidemiological studies prove major genetic influences on two common forms of idiopathic epilepsy to be discussed here: rolandic epilepsy (RE) and juvenile myoclonic epilepsy (JME). The common forms of these idiopathic syndromes have a complex genetic inheritance, and this fact complicates the task of finding and elucidating the susceptibility genes as well as proving their pathogenic role. Genetic heterogeneity and phenotype definition are much more serious factors in studying common complex epilepsies than they are in the study of densely affected epilepsy pedigrees showing Mendelian inheritance. In complex disorders, several genes and sometimes environmental factors are believed to contribute to disease etiology; as a result, proving a causative role for any one gene, in a genetic model involving multiple genes, can present a challenge.

Chapter.  6374 words.  Illustrated.

Subjects: Neurology

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