The Genetics of the Epilepsies

  • Christelle M. El AchkarEmail author
  • Heather E. Olson
  • Annapurna Poduri
  • Phillip L. Pearl
Pediatric Neurology (P Pearl, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Pediatric Neurology


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.


Epilepsy Epileptic encephalopathy Epilepsy syndrome Channelopathies Genetics Channelopathies 


Compliance with Ethics Guidelines

Conflict of Interest

Christelle M. El Achkar and Phillip L. Pearl declare that they have no conflict of interest. Heather E. Olson has received a grant from the NINDS (5K12 NS079414-02). Annapurna Poduri has received a K23 grant from the NINDS.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Christelle M. El Achkar
    • 1
    Email author
  • Heather E. Olson
    • 2
  • Annapurna Poduri
    • 2
  • Phillip L. Pearl
    • 1
  1. 1.Division of Epilepsy, Department of NeurologyBoston Children’s Hospital, and Harvard Medical SchoolBostonUSA
  2. 2.Epilepsy Genetics Program, Division of Epilepsy, Department of NeurologyBoston Children’s Hospital, and Harvard Medical SchoolBostonUSA

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