How research into KCNT1-related epilepsy is giving hope to affected families

FBS researchers are working with Action Medical Research to identify chemical compounds that could form the basis of new medicines for children with KCNT1-related epilepsies.

KCNT1 related epilepsy is a severe and rare form of epilepsy which causes frequent seizures.

Dr Emily Caseley, Postdoctoral Research Fellow in the School of Biomedical Sciences, explains:

“The KCNT1 gene produces a protein which you can find in the brain. When faults in this gene occur, proteins become overactive. It’s this intense electrical activity which leads to regular seizures. 

“Affected children can have up to 50 seizures a day, can’t learn to walk or talk and also very sadly, some die quite early on in life.”

Dr Caseley is part of a research team at the University which is supported by children’s charity Action Medical Research, to identify chemical compounds that could lead to new treatments for KCNT1 related epilepsy and affected children, like Paddy.

“At the moment, the current treatments for KCNT1 associated epilepsy are really lacking.

“At the University of Leeds, we’re taking a computational and laboratory approach which is unique because we’re able to both screen for compounds that may interact with the protein and physically test it in the laboratory.

“We start by taking a KCNT1 protein structure and computationally screening millions of compounds. This allows us to predict which compounds may bind to our drug target.

“We then take them back into the laboratory and physically test them so we know for sure these actually do block the activity of the KCNT1 protein. 

“The hope being that if we can block this channel, we can prevent the seizures happening, whilst reducing the chance of delayed development. So far, we have around 15 chemicals that we know block this channel. It feels like there’s light at the end of the tunnel.” 

Tackling other conditions

What’s particularly promising about this research approach is that can be used to tackle other conditions.

Dr Caseley continues:

“It gives us real potential to have an impact on thousands of people who have other rare diseases. It’s incredibly motivating to be able to see that tangible effect which feels within grasp.”

Sarah Moss, Director of Communications at Action Medical Research, explains: “Seventy five percent of all rare diseases affect children – and 30% of children with a rare condition will lose their lives before their fifth birthday.

“Thousands of children across the UK, like Paddy, are living with rare and devastating diseases that have no cures. That’s why Action Medical Research is funding research like this at the University of Leeds to help develop treatments and cures to tackle rare diseases that cause so much suffering for children and their families.”

Read Paddy’s story.