Grant: Institute of Genetics Clinical Investigatorship Award

Epilepsy is a common condition that affects nearly 1% of Canadians. Genetics is known to contribute significantly to the overall susceptibility for epilepsy. The majority of individuals are thought to have epilepsy due to many factors including the environment and genetics. However, there are some families who have epilepsy due to a single genetic change. These genes can be difficult to identify given the uniqueness of any given family and the techniques previously available (eg Sanger sequencing). Next-generation sequencing is a new method capable of reading all of the genes throughout our genome (>22,000). We plan to use this new technology to identify novel epilepsy genes as well as search for changes at the known epilepsy genes. By providing a molecular diagnosis, we can give accurate genetic counseling, we can provide information about the natural history, also halt or limit further testing, and potentially optimize the available anti-epileptic therapies.