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UNDERSTANDING EPILEPSY GENES - Research for a brighter future
14 Jul 2010

In around 70% of people with epilepsy the cause is genetic; this may be the case even if there are no immediate family members with seizures. Dr Lynette Sadleir, a Paediatric Neurologist at Wellington Hospital, along with her research team, are attempting to find the genes that cause epilepsy. This will hopefully lead to understanding more about these genes and how that information can be used to improve treatment for people in the future.

Dr Sadleir has a longstanding working relationship with the research group led by Prof. Ingrid Scheffer and Prof. Sam Berkovic and at the Austin Hospital in Melbourne. This group have been studying epilepsy genetics for almost 20 years and have contributed significantly to the field.

By studying large families with many affected individuals, the team at the Austin, along with other research groups, have successfully identified genes causing epilepsy syndromes with single gene inheritance; that is where just one gene is responsible for causing the seizures. However, it is likely that most epilepsies are caused by the interactions of a number of different genes, this makes the identification of these genes a little bit more challenging.

The team in Wellington is actively recruiting children with epilepsy both with and without a family history. As each person is a mixture of both Mum and Dad’s genetic material (DNA) where possible we are also recruiting both parents for the analysis. Families with many individuals with epilepsy are important because in these families it is easiest to discover genes. But if a child is the only person with seizures in his/her family then they are also very important. Once a genetic cause has been identified in a big family it is then necessary to look at ALL people with that type of epilepsy to see how frequently it occurs in the rest of the population.

Taking part in the study is easy; once written consent has been given, each person (or their parents) is ‘interviewed’, usually by phone, to make sure that the diagnosis for the specific epilepsy syndrome is as accurate as it possibly can be. Parents are interviewed as well to make sure that they definitely do not have a very mild form of epilepsy. Once the interviews are conducted all that remains is for a blood sample to be taken from each person so that the DNA can be analysed.

Finding new types of epilepsy and the genes responsible for seizures will allow Doctor’s to give better information to children and adults about what is going to happen to their epilepsy in the future. The ultimate aim is to develop drugs which will cure epilepsy or possibly prevent the development of seizures. This is not likely to happen for quite some time but identifying the genes responsible is the first step in this direction.

If you would like more information about this research, or to be involved, please contact Natalie Redshaw on (04) 918-6147, or email Natalie.redshaw@otago.ac.nz.

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