The impact of genetic and experimental studies on classification and therapy of the epilepsies

Giuliano Avanzini, Massimo Mantegazza, Benedetta Terragni, Laura Canafoglia, Paolo Scalmani, Silvana Franceschetti

Research output: Contribution to journalReview articlepeer-review


Different types of epilepsy are associated with gene mutations, in which seizures can be the only symptom (genetic epilepsies) or be one of the elements of complex clinical pictures that are often progressive over time (epileptic or epileptogenic encephalopathies). In epileptogenic encephalopathies, epileptic seizures and other neurological and cognitive signs are symptoms of genetically determined neuropathological or neurochemical disorders. In epileptic encephalopathies, epileptic activity itself is thought to contribute to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone. The distinction is conceptually clear and clinically relevant, as the different categories have a different prognosis in terms of both epilepsy and associated neurological and cognitive picture, but the boundaries are sometimes difficult to define in the clinical practice. Here we review the genetic epilepsies from the clinician perspective. A monogenic inheritance has been defined only in a minority of idiopathic epilepsies making improper to rename genetic the category of idiopathic epilepsies, until the presumptive multigenic mechanism will be demonstrated. A search for gene mutations must be done in any patient with candidate genetic types of epilepsy or epileptic/epileptogenic encephalopathy (e.g. familial forms) to complete the diagnostic process, define the prognosis and optimize the therapy. Advanced methods are available to express the gene variant in experimental model systems and test its effect on the properties of the affected protein, on neuronal excitability and on phenotypes in model organisms, and may help in identifying treatments with compatible action mechanisms. The influence of genetic studies on epilepsy taxonomy is now a matter of discussion: their impact on the international classification of the epilepsies will hopefully be defined soon.

Original languageEnglish
Pages (from-to)17-26
Number of pages10
JournalNeuroscience Letters
Publication statusPublished - Feb 22 2018


  • Epilepsy classification
  • Epilepsy genes
  • Genetic epilepsies

ASJC Scopus subject areas

  • Neuroscience(all)

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