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Current Neurology and Neuroscience Reports

Erschienen in:

01.07.2015 | Pediatric Neurology (P Pearl, Section Editor)

The Genetics of the Epilepsies

verfasst von: Christelle M. El Achkar, Heather E. Olson, Annapurna Poduri, Phillip L. Pearl

Erschienen in: Current Neurology and Neuroscience Reports | Ausgabe 7/2015

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Abstract

While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling.

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Titel: The Genetics of the Epilepsies
verfasst von: Christelle M. El Achkar
Heather E. Olson
Annapurna Poduri
Phillip L. Pearl
Publikationsdatum: 01.07.2015
Verlag: Springer US
Erschienen in: Current Neurology and Neuroscience Reports / Ausgabe 7/2015
Print ISSN: 1528-4042
Elektronische ISSN: 1534-6293
DOI: https://doi.org/10.1007/s11910-015-0559-8

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