At the Epilepsy Research Group, we aim to understand the spectrum of epilepsy syndromes and their underlying genetic causes. We hope this will improve the quality of life for children with epilepsy and their families.
- Identify new and refine emerging epilepsy syndromes
- Elucidate the genetic architecture of the epilepsies
- Discover the genes that cause the epilepsies
- Work toward precision medicine with targeted therapies for epilepsies
There are more than 1,200 New Zealanders affected by epilepsy, who are participating in our research.
Our research includes people with all forms of epilepsy – from the milder syndromes with a better prognosis to the more severe end – and all age groups from newborn to adulthood. A family history of epilepsy is not necessary to be eligible to participate. Additionally, we also invite those with a known genetic mutation to participate in our research.
An individual’s epilepsy is multifaceted. A crucial step in our research is the characterisation of his/her clinical details. Everyone who takes part in the study is interviewed using a validated seizure interview.
In addition, each participant's clinical records are meticulously reviewed and summarised. Due to the complex nature of epilepsy, this not only includes records related to seizures, but also records related to the investigation history (EEGs, MRIs, and biochemical, genetic, and metabolic tests), developmental or behavioural issues, and speech or language impairments.
Details from the interview are combined with the clinical details. This meticulous characterisation of each participant’s epilepsy enables us to identify new and refine emerging epilepsy syndromes.
Classifying epilepsy in this way is important for epilepsy genetic discoveries. DNA is extracted from blood or saliva and subsequently used in various genetic analysis projects determined by each participant's type of epilepsy and the projects we are undertaking at the time.
Where possible, we also study the parents of people with epilepsy regardless of whether or not they have seizures.
The Epilepsy Research Group is based at the University of Otago, Wellington, New Zealand, and is led by Professor Lynette Sadleir.
It is closely linked with the Epilepsy Research Centre (ERC) at the University of Melbourne led by Laureate Professors Ingrid Scheffer and Samuel Berkovic, who were awarded the Australian Prime Minister’s Prize for Science in 2014.
Professor Lynette Sadleir with the Epilepsy Research Group.