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A pharmacogenomic study of chronic refractory epilepsy

Principal Investigator:
Dr. Gianpiero Cavalleri, The Royal College of Surgeons in Ireland


€147,758 over three years. 50% of the funding for this project has been made available by the Health Research Board (HRB) through the Joint Funding Scheme operated by the HRB and the Medical Research Charities Group, of which Epilepsy Ireland is a member. Epilepsy Ireland will fund the other 50% through fundraising.

About this project:

With current knowledge, doctors have few indicators to predict which patients will respond to a particular drug treatment and to what extent. However, it is believed that genetics may play a role. Therefore, understanding the genetics of drug response offers the potential to tailor treatment to the individual which would in turn help improve outcomes for the patient.

Dr. Cavalleri's study will explore the role of genes in patients' responses to epilepsy drug treatment, using the latest generation of genetic techniques.

The research team will gather information from over 1000 people with epilepsy. They will create an electronic resource to store, for each participant, a comprehensive set of drug response and other clinical details.

All the people involved will be monitored to see how they are responding to treatment and how they have responded in the past. The research team will then correlate variation across the genome with patient response details to determine the potential of genetics to identify those patients who respond poorly to treatment.

This study will provide a thorough assessment of the potential for genetics to be used as a guide for doctors in identifying which of their patients with epilepsy will respond to medication and which will not. It will also help to build the knowledge base required to deliver on the long term goal of providing optimal holistic care to individuals with epilepsy and related disorders.


Results of the study can be downloaded in the pdf at the end of the page. The article was originally published in Epilepsy News Summer 2014.


TDP2 protects transcription from abortive topoisomerase activity and is required for normal neuralfunction.
Nat Genet. 2014 Mar 23.

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
Brain. 2013 Oct;136(Pt 10):3140-50.

Identification of common variants associated with human hippocampal and intracranial volumes.
Nat Genet. 2012 Apr 15;44(5):552-61

Downloadable Resources