Study to investigate endophenotypes in epilepsy.

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The cause of epilepsy is complicated and probably involves many genes working together. Currently our understanding of the genetics of epilepsy is limited.There are certain characteristics called ‘endophenotypes‘ which may be present in individuals who carry genes that cause a disease, but who do not show symptoms of the disease. Identification of these characteristics has revolutionised genetic studies in other diseases, but the potential for endophenotypes to cast light on the genetics of epilepsy has not yet been exploredEndophenotypes can only be detected with special tests. We plan to study families with epilepsy to try to identify endophenotypes using a number of methods. One method, EEG, measures electrical activity of the brain. A second method, transcranial magnetic stimulation, measures brain activity using special magnets. We will also use brain scanning methods (magnetic resonance imaging and spectroscopy) to obtain images of the brain and to measure chemical levels in the brain. We hope to identify abnormalities with these tests in apparently unaffected relatives of patients with epilepsy.If successful, the identification of endophenotypes will contribute to the identification of genes that cause epilepsy, and by understanding better the genetic causes of epilepsy, we can move towards developing new treatments.