World Purple Day: Improving diagnosis for children with severe genetic epilepsy

World Purple Day is celebrated on the 26th March, a day aimed at raising awareness of epilepsy.

What is Epilepsy?

Epilepsy is one of the most common neurological disorder that affects the brain, often causing seizures. Around 65 million people in the world have epilepsy and although epilepsy can develop at any stage of life, it is more common in children, adolescents and people over 60.

1 in 200 children have epilepsy, and 5% of children will have a seizure of some form during childhood.

Severe genetic epilepsy in children

There are many different causes of epilepsy, for example due to infections or differences in the underlying brain tissue. One type of childhood epilepsy is genetic epilepsy. Genetic epilepsies are due to a change in a child’s genetic (DNA) code. Some types of genetic epilepsy, especially those where seizures start before the age of 2, can be very serious. Seizures can be hard to control. Children with genetic epilepsies often have many other health problems, including developmental delays, autism,  cerebral palsy , feeding and sleeping problems.

Better diagnosis for children with genetic epilepsy

Until recently, the underlying genetic causes of these severe genetic epilepsies were unknown. Now, with the advancement of genomic technologies and research coordinated by Dr Elizabeth Palmer, Clinical Geneticist, and teams at the Centre of Clinical Genetics and Department of Neurology, Sydney Children’s Hospital, Randwick, SCHN, many more families have the answer to why their child has a severe epilepsy.

The study tested 2 different methods of genetic testing - exome sequencing (a method looking into targeted regions of individual DNA) and genome sequencing (test to look into the whole DNA). Overall, the study found a genetic diagnosis in 72% of children.

In this study, we were not only able to improve the rate of diagnosis for children with severe genetic epilepsy through whole genome sequencing, but we were also able to discover new genes that could potentially be a significant contributor to the underlying cause of these genetic epilepsies

By unlocking more answers to these devastating diseases, we will be able to have better targeted treatments, improving the way we provide quality of care to the many patients affected – Dr Elizabeth Palmer, Clinical Geneticist, Sydney Children’s Hospital, Randwick, SCHN

Additionally, Suzanne Nevin, PhD student in the CoGENES team at University of New South Wales based at Sydney Children’s Hospital, Randwick is currently working with families who have had a rare epilepsy diagnosis, to develop key educational and support resources for families and clinicians about genetic epilepsy. To learn more about this, visit The Paediatric Epilepsy Network New South Wales.

Full published study can be found here