Genetic analysis of genes associated with epilepsy

Giulia Guerri, Marco Castori, Leonardo D'Agruma, Antonio Petracca, Danjela Kurti, Matteo Bertelli

Research output: Contribution to journalArticlepeer-review


BACKGROUND AND AIM: Epilepsy is a neurological disorder in which the altered activity of neurons causes convulsions, periods of unusual behavior and, sometimes, loss of consciousness. The aim of this mini-review is to summarize all the syndromes characterized by epilepsy and for which the associated gene is known. METHODS: We searched those syndromes in PubMed and OMIM database. RESULTS: Genetic causes underlie epilepsy in about 40% of individuals. Epilepsies are phenotypically and genetically heterogeneous. Inheritance can be autosomal dominant or recessive or X-linked recessive/dominant. CONCLUSION: Since epilepsy has high genetic heterogeneity, in diagnostics, the parallel sequencing of a panel of genes may speed up the determination of the molecular etiology and/or establish a risk of recurrence in family members for the purpose of planning appropriate preventive and/or therapeutic measures.

Original languageEnglish
Pages (from-to)e2020005
JournalActa bio-medica : Atenei Parmensis
Issue number13S
Publication statusPublished - Nov 9 2020

ASJC Scopus subject areas

  • Medicine(all)


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