Chapter

Genes in Infantile Epileptic Encephalopathies

Christel Depienne, Isabelle Gourfinkel-An, Stéphanie Baulac and Eric LeGuern

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/9780199746545.003.0062

Series: Contemporary Neurology Series

Genes in Infantile Epileptic Encephalopathies

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In this chapter, we will focus on the genes responsible for infantile EEs as the main component of the clinical picture and not on those included in complex phenotypes encountered in metabolic diseases or in contiguity syndromes due to large chromosomal abnormalities. Indeed, the association of EE with a dysmorphy or extraneurological symptoms should lead to specific metabolic or cytogenetic investigations. In the first part of this chapter, we will review the genes involved in early infantile epileptic encephalopathies (EIEEs). Although the mutations in these genes are rare, their screening has to be integrated into a rational diagnostic strategy. It is particularly important to rule out genetic etiologies since there is a risk of the disease recurring in the family. In this review, we will focus on DS as an example of a genetically determined infantile EE to emphasize the difficulties and pitfalls that might be encountered in such diseases.

Chapter.  9100 words.  Illustrated.

Subjects: Neurology

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