Finding early disease clues to help patients with severe epilepsies

Lead researcher: Professor Andreas Brunklaus

Partners: University of Glasgow, King’s College London, Great Ormond Street Hospital

Funder: Epilepsy Research Institute

Start date: 2026

The SCN1A Horizons natural history study is building a detailed picture of how Dravet Syndrome affects children and adults across the UK. This new Epilepsy Research Institute UK-funded project, led by Professor Andreas Brunklaus, will add a new layer to that work by exploring whether early physical signs in infants can predict how their thinking, communication and movement will develop over time.

In a small group of SCN1A Horizons participants, two different approaches will be used. Some children will complete tasks at home while wearing an EEG device to monitor brain activity. Others will provide nose swabs and blood samples, which will be analysed for levels of a protein known to signal brain health to identify if it could be a potential marker for tracking disease progression.

If the study finds that these early signs reliably predict each child’s individual trajectory, it could support earlier diagnosis of Dravet Syndrome and give families and clinicians clearer, evidence-based guidance when making decisions about treatment and care. As new gene-targeted therapies continue to emerge, tools like these will be vital in helping measure their benefit.

Dravet Syndrome UK’s Chief Scientific Officer, Ceri Hughes, is a collaborator on this project.