Genetics of epilepsy and relevance to current practice

Roberto Michelucci, Elena Pasini, Patricia Riguzzi, Lilia Volpi, Emanuela Dazzo, Carlo Nobile

Research output: Contribution to journalArticlepeer-review


Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomaldominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.

Original languageEnglish
Pages (from-to)445-455
Number of pages11
JournalCurrent Neurology and Neuroscience Reports
Issue number4
Publication statusPublished - Aug 2012


  • Autosomal-dominant lateral temporal epilepsy
  • Dravet syndrome
  • Genetic epilepsies
  • LGI1 mutations
  • Progressive myoclonus epilepsies
  • SCN1A-related phenotypes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


Dive into the research topics of 'Genetics of epilepsy and relevance to current practice'. Together they form a unique fingerprint.

Cite this