Congenital disorders

Changing Policy and Practice

At a glance

Improving genetic testing for epilepsy

Lead researcher

Dr Emma Louise Baple


University of Exeter



Amount awarded


Last updated



A genetic diagnosis can provide important information in determining which treatments may be of benefit or harm for patients with epilepsy.

Dr Emma Baple Dr Emma Baple

A common tool used to diagnose genetic types of epilepsy is known as a 'gene panel', which examines multiple different genes at the same time. The genes included on these panels are decided by reviewing published scientific studies, however due to the current lack of international guidance for creating them, they can often contain genes with incomplete or inaccurate evidence.

Dr Baple and her team led the landmark 'Windows of Hope' project, which defined more than 150 genetic disorders in North American Amish communities. This included fresh appraisal of the association between the SCN9A gene and epilepsy, which they proved did not exist, leading to the recommendation to remove it from epilepsy gene panels.

Unfortunately, many genetic testing providers still include SCN9A in their gene panel tests, so Dr Baple and the team will use this new funding to develop new genomic data sharing tools, platforms and policies. This will improve the accuracy of gene panel development practices, aiding diagnosis and treatment for patients with epilepsy.

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