Genetics of Temporal Lobe Epilepsy

Epilepsy is about 7 times more common in people with a genetic syndrome caused by chromosome 22q11.2 microdeletion or 22qCNV. Dr. Danielle Andrade and her team have recently found that people with this syndrome also have one irregular hippocampus (a deep brain structure within the temporal lobe, which is located at the side of the brain). An irregular hippocampus on one side of the brain is also found in some people with temporal lobe epilepsy. Could this provide a clue to the underlying genetics of temporal lobe epilepsy?

Dr. Danielle Andrade and colleagues are currently examining adults with temporal lobe epilepsy who have one irregular hippocampus to better understand the underlying genetics. In this study, participants have their entire genetic code (genome) read and differences in the code that may cause or increase the risk of developing temporal lobe epilepsy are identified.

From the results of this study, Dr. Andrade and her team are hoping to understand more about the genetics of temporal lobe epilepsy – what causes the condition and what potential treatments can be used to correct these genetic changes. In future, Dr. Andrade and her team will also look at the genes found in the brain tissue removed during epilepsy surgery, which will help to identify the genetic changes that occur in the parts of the brain where seizures start.

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Status: Recruiting

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