Genetic analysis of genes associated with epilepsy

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. (www.actabiomedica.it)