Delayed diagnosis. Trial-and-error treatments. Uncoordinated care. Many people with epilepsy will recognise these challenges, but for people with rare epilepsies, these problems can be particularly severe.
Rare epilepsies are defined as those conditions diagnosed in fewer than 1 in 2,000 people. Though individually rare, collectively they affect tens of thousands of people, and have a huge impact on individuals affected and their families and carers.
However, there is a great deal of exciting research happening into rare epilepsies. At our Navigator Symposium on Rare Epilepsies in November 2025, we brought together world-leading experts and people with lived experience to talk about some of the latest science.
In this article, we highlight a few research areas which may one day help people with rare epilepsies live seizure-free.
Rarer types of epilepsy, particularly those that affect children, are linked to genetic changes and variations. A key focus of much research is to better understand how exactly these changes to a person’s DNA code cause their seizures. If we can understand the underlying biology of these epilepsies, we have a better chance of finding treatments that can stop them.
Problems with a molecule called mTOR can cause a range of conditions affecting around 10,000 people in the UK, including some epilepsies. To tackle this, a £1.1 million project has been investigating mTOR and related molecules since 2023. The Epilepsy Research Institute has been contributing by facilitating patient involvement through our Shape Network. Making sure that people affected by rare epilepsies can influence research will help ensure their specific challenges are addressed.
Since epilepsy is typically characterised by a brain state that involves excessive activity of neurons, another area of focus are ion channels – tiny gates that control the flow of charged particles in and out of neurones and affect their excitability. Mutations that affect these channels can cause some epilepsies, such as mutations in SCN1A leading to Dravet syndrome.
In 2024, we co-funded two fellowship projects with Dravet Syndrome UK – one aiming to better understand the symptoms of Dravet syndrome and the other developing a novel gene therapy.
New lab techniques are accelerating progress in research into rarer epilepsies. For example, we funded work that involved growing small pieces of human brain tissue in the lab to investigate epilepsies caused by STXBP1 mutations. We’ve also funded research to understand a certain type of epilepsy affecting babies, by growing neurones from skin samples donated by patients.
The goal of understanding the biology of these rare epilepsies is to find new treatments. Again, technology may help with this. Research we’ve funded has used computer simulations to carry out virtual drug tests on 100,000 chemicals to find out whether they could block the KCNT1 channel. Finding a new treatment for severe epilepsies caused by faults in KCNT1, which make it overly active, would make a huge difference to children affected.
Currently, treatment decisions for rare epilepsies are based on the kind of epilepsy they have – even though the same type of epilepsy could have multiple different genetic causes and responses to treatment.
For example, different mutations in Cav2.3, present in certain developmental and epileptic encephalopathies (DEEs), are thought to affect responses to treatment. We’re currently funding research to explore how to better tailor treatments, to make them more personalised for people affected by these conditions.
Advances in technology are already helping to achieve truly personalised medicine – including unique drugs tailored to individual patients. One recent example is the story of Mila, who had a unique gene therapy created just for her – called Milasen – to counteract a genetic fault in her DNA that caused Batten disease.
People affected by rare epilepsies face many disparities when it comes to diagnosis and treatment. That’s why the Institute is driving investment in research into rare epilepsies, to finally give these conditions the attention they need and deserve. Together, we can create a future where everyone, irrespective of their type of epilepsy, has a seizure-free life.
The Epilepsy Research Institute will continue to invest in the most promising research as identified by experts through events like the Navigator Symposium. A life free from epilepsy is possible, but only through research, so please help us to fund this essential work by giving regular donations, or by taking part in a challenge event to raise money for us.
