Dr. Danielle Andrade and her colleagues at Toronto Western Hospital are looking into the common features of epilepsy and a genetic syndrome known as Di George syndrome or chromosome 22q11.2 microdeletion (22qCNV). People with this genetic syndrome are 7 times more likely to have epilepsy than people in the general population.
In her 2013 paper, Dr. Andrade found that people with 22qCNV syndrome have one irregular, slightly rotated hippocampus (a deep brain structure within the temporal lobe, which is located at the side of the brain). A slightly rotated hippocampus on one side of the brain is also found in some people with temporal lobe epilepsy. This may point to a similar, underlying genetic cause.
To better understand these genetics, Dr. Andrade and her colleagues are currently recruiting adults with temporal lobe epilepsy and one rotated hippocampus for a clinical study. They will be testing blood samples from participants to study their entire genetic code (genome), looking for differences in the code that may cause or increase the risk of developing temporal lobe epilepsy. Wherever possible, they will also be looking at the genetics from removed brain tissue samples.
The goal of this study is to help uncover the genetics of temporal lobe epilepsy – helping us to better understand what causes the condition and how to tailor treatments for some of these genetic changes.