The role of genetic testing in epilepsy diagnosis and management.
Weber YG1, Biskup S2, Helbig KL3, Von Spiczak S4,5, Lerche H1.
- Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research , University of Tübingen , Tubingen , Germany.
- CeGaT GmbH , Center for Genomics and Transcriptomics , Tübingen , Germany.
- Division of Clinical Genomics , Ambry Genetics , Aliso Viejo , CA , USA.
- Department of Neuropediatrics , University Medical Center Schleswig-Holstein, Christian Albrechts University , Kiel , Germany.
- Northern German Epilepsy Center for Children and Adolescents , Schwentinental-Raisdorf , Germany.
Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. More than 500 epilepsy-associated genes have been described in the literature. Most of these genes play an important role in neuronal excitability, cortical development or synaptic transmission. A growing number of genetic variations have implications on diagnosis and prognostic or therapeutic advice in terms of a personalized medicine. Area covered: The review presents the different forms of genetic epilepsies with respect to their underlying genetic and functional pathophysiology and aims to give advice for recommended genetic testing. Moreover, it discusses ethical and legal guidelines, costs and technical limitations which should be considered. Expert commentary: Genetic testing is an important component in the diagnosis and treatment of many forms of epilepsy.