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Rare Epilepsies – expanding what we know



Rare Epilepsies - Expanding what we know

Date Published: November 2, 2022

Author: James Matejka

Imagine that your child not only has epilepsy, but you discover it is one of the rarest forms, with just 20 cases worldwide. People with rare epilepsies face additional challenges when it comes to diagnosis and treatment. On the Research Blog in November, we’ll be looking at rare epilepsies and the difference research could make for people with these unique conditions. 

People often comment that epilepsy is a common condition, but Iain knows there’s nothing common about his daughter Isabelle’s condition. A mutation in a gene called DNM1 affects how neurones in her brain talk with each other, which causes seizures that sometimes put two-year-old Isabelle in hospital. “It’s resulted in us knowing the lovely staff on the Children’s Ward of our local hospital extremely well,” Iain wryly observes.  

What we also know is that this mutation Isabelle carries is incredibly rare and has only recently been linked to epilepsy. And as a result, there is currently much we don’t know about how best to control her seizures.   

Epilepsy is not just one condition – there are thought to be over 40 different types of seizure, and many different forms of epilepsy and epilepsy syndromes. Anything that’s present in fewer than 200,000 people is considered a ‘rare epilepsy’. As for Isabelle’s epilepsy, one study could gather information on only 20 children worldwide.   

Because they are so rare, it can take a long time to diagnose these forms of epilepsy. And even if an underlying cause is identified, they can often be difficult to treat too. These epilepsies might be rare, but they can still have a huge impact on the lives of those affected. 

However, while their rarity presents challenges for research, it should not be a barrier to research. Children like Isabelle deserve better treatments, and family members like Iain deserve answers for their loved ones.  

Thanks to your donations, Epilepsy Research UK is able to fund vital research into rare forms of the condition. On the Research Blog this month, we’ll be highlighting the work of three scientists working towards a better understanding, diagnosis, and treatments for people with rare epilepsies. 

Dr Faye McLeod is developing a new method to study the gene mutations that are behind many of the rare epilepsies that develop in early childhood. While initially focusing on a gene called STXBP1, Faye’s method – which involves growing small pieces of human brain in the lab – could extend to studying other gene mutations too. On the Research Blog later this month, Faye will explain how this could help to test new treatments, and provide a better diagnosis for children affected by early-onset epilepsies.  

FIRES (febrile infection-related epilepsy syndrome) is a condition which, as the name suggests, is characterised by a sudden onset of relentless, difficult-to-treat seizures – sometimes hundreds a day. Dr Sukhvir Wright is developing a new method to study the underlying causes of FIRES and test treatments to counteract it. Sukhvir will also be collecting information about how FIRES is currently treated, which will help her develop new treatment guidelines. In her blog post later this month, Sukhvir will discuss how she hopes her work could transform the lives of children and adults affected by FIRES.  

Dr Jonathan Lippiat is studying a mutation in a gene called KCNT1 which causes people to experience severe seizures, several times a day. Standard anti-epilepsy drugs often can’t control these seizures, so instead, Jonathan is testing drugs which counteract the KCNT1 mutation directly, “reversing the problem at its source,” as he puts it. In his blog post later this month, Jonathan will share his progress on finding new treatments for this form of epilepsy, and the potential of using computers to help design new drugs.  

There is also promising research taking place to find new treatments for Isabelle’s condition. The hope is that new drugs could limit or even eliminate seizures, but it’s still very early days. 

Nevertheless, it is this hope that has made Iain determined to raise money to support research into rare forms of epilepsy. Just this year, he has completed three huge cycling events in aid of Epilepsy Research UK: “I understand how difficult epilepsy is to live with and how scary it can be due to its unpredictable nature,” Iain says. “I also wanted to raise awareness of epilepsy and the fantastic work Epilepsy Research UK do in enabling life-changing research.”  

Next week on the Research Blog, Iain will be sharing more about Isabelle and her story, and why research is so important to them.  

There’s so much we don’t know about rare epilepsies. But with so much to discover, there’s huge potential to make a significant difference to those affected, like Isabelle. So it’s only through research that we can hope to understand rare epilepsies. By improving treatments and diagnosis, we know we’ll help more people live a life free from epilepsy.  

Keep an eye on the Research Blog during November where Iain, Faye, Sukhvir, and Jonathan will be sharing their perspectives on rare epilepsies.