The role of genetic testing in epilepsy diagnosis and management

Expert Rev Mol Diagn. 2017 Aug;17(8):739-750. doi: 10.1080/14737159.2017.1335598. Epub 2017 Jun 26.


Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing. Moreover, it discusses ethical and legal guidelines, costs and technical limitations which should be considered. Expert commentary: Genetic testing is an important component in the diagnosis and treatment of many forms of epilepsy.

Keywords: Genetic counseling; exome; genetic epilepsies; genome; idiopathic; metabolic epilepsies; microarray analysis; next generation sequencing; personalized medicine; precision medicine.

Publication types

  • Review

MeSH terms

  • Epilepsy / diagnosis*
  • Epilepsy / economics
  • Epilepsy / genetics*
  • Epilepsy / therapy*
  • Genetic Testing / economics
  • Genetic Testing / legislation & jurisprudence
  • Genetic Testing / methods*
  • Humans