Genetic analysis of genes associated with epilepsy
Giulia Guerri1, Marco Castori2, Leonardo D'Agruma3
1MAGI'S LAB, Rovereto (TN), Italy. giulia.guerri@assomagi.org.
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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