Genetic analysis of genes associated with epilepsy

Main Article Content

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

Keywords

epilepsy, genetic test, molecular diagnosis

Abstract

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.

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