WCH breakthrough in epilepsy

Genes & Epilepsy: How do they “fit”? – Robyn Wallace

Robyn has identified the first gene known to cause febrile seziures. This is a specific form of epilepsy that affects young children.

Scientists at the Women’s and Children’s Hospital are at the forefront of research into the genetic causes of epilepsy and have found a mutation in a sodium channel gene which has caused a Tasmanian family to suffer epileptic atttacks.

The discovery of this gene has immediate benefits for this family and will increase our understanding of epilepsy in general.

The discovery of epilepsy genes will lead to the development of new therapeutic strategies by enabling the design of new anti-epileptic drugs, which will have fewer side effects because they can be designed to act on a specific target.

Four years ago, researchers at the hospital found the first gene for inherited epilepsy, and more recently a second gene was discovered. This brings the world-wide total number of genes up to four, half of these being identified by the WCH. This has implications for the diagnosis, treatment and, ultimately, prevention of the disease.

The four epilepsy genes discovered to date are different from one another, but all function in a similar way. Around two thirds of all epilepsy cases are due to a genetic defect and many different genes are thought to be involved.

The latest gene to be discovered causes a common form of epilepsy which affects infants and is associated with high fever.

The identification of this gene was made possible through the participation of a Tasmanian family (who participated in an epilepsy study) where the disorder is inherited. Dr Robyn Wallace, Research Officer in the Department of Cytogenetics and Molecular Genetics, Women’s and Children’s Hospital found that a mutation in a sodium channel gene caused this family to suffer epileptic attacks.

Sodium channels are found in nerve cells of the brain and allow the cells to communicate with each other by way of an electrical impulse.

The research is ongoing and scientists at the WCH are confident they can keep up their success rate and remain world leaders in the field of epilepsy genetics.

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