Recent advances in epilepsy genetics

Alessandro Orsini, Federico Zara, Pasquale Striano

Research output: Contribution to journalReview article


In last few years there has been rapid increase in the knowledge of epilepsy genetics. Nowadays, it is estimated that genetic epilepsies include over than 30% of all epilepsy syndromes. Several genetic tests are now available for diagnostic purposes in clinical practice. In particular, next-generation sequencing has proven to be effective in revealing gene mutations causing epilepsies in up to a third of the patients. This has lead also to functional studies that have given insight into disease pathophysiology and consequently to the identification of potential therapeutic targets opening the way of precision medicine for epilepsy patients. This minireview is focused on the most recent advances in genetics of epilepsies. We will also overview the modern genomic technologies and illustrate the diagnostic pathways in patients with genetic epilepsies. Finally, the potential implications for a personalized treatment (precision medicine) are also discussed.

Original languageEnglish
Pages (from-to)4-9
Number of pages6
JournalNeuroscience Letters
Publication statusPublished - Feb 22 2018


  • Epilepsy
  • Genetics
  • Monogenic epilepsy
  • Next-generation sequencing
  • Precision medicine
  • Whole-exome sequencing

ASJC Scopus subject areas

  • Neuroscience(all)

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