Epilepsy: searching for a new treatment for a group of rare childhood epilepsy syndromes

Faults in a gene called KCNT1 can cause severe neurological conditions in children, known as KCNT1-related epilepsies. Affected children often experience repeated seizures very early in life and many will also have delayed development, learning difficulties, behavioural or movement problems. Sadly, many will lose their lives before adulthood. Dr Jonathan Lippiat of the University of Leeds is aiming to identify chemical compounds that could form the basis of an effective new treatment for KCNT1-related epilepsies. In the longer term, developing a new drug that can control seizures and prevent brain damage could help transform the lives of children and families affected by these devastating conditions.

How are children’s lives affected now?

A child with a KCNT1-related epilepsy will usually experience severe seizures that begin in the first days or months of life. Some children will have repeated seizures every day, and many will have delayed development or other neurological problems.

“A child will typically start missing their developmental milestones in infancy or early childhood – and some will never learn to walk or talk,” says Dr Lippiat.

The KCNT1 gene provides the instructions for making a protein that plays a key role in the ability of nerve cells in the brain to generate and transmit electrical signals. Children with KCNT1-related epilepsies have faults in this gene that make this protein overactive. In turn, this leads to abnormal electrical activity in nerve cells – causing seizures.

“Currently there are no treatments that can adequately control seizures or improve other problems experienced by these children,” says Dr Lippiat. “Effective new treatments are desperately needed that can help to improve and extend their lives.”

How could this research help?

“Our goal is to identify promising drug candidates that could be developed into an effective new medicine for children with KCNT1-related epilepsies,” says Dr Lippiat.

The researchers previously used computer-based approaches to screen millions of different chemical compounds, narrowing down a shortlist that could have the ability to block the activity of the KCNT1 protein.

“We will now carry out laboratory tests to find out which of these chemicals might also have the right properties to be developed into a new medicine,” says Dr Lippiat.

By combining the results from their laboratory experiments and computer-based approaches, they hope to identify a range of potential drug candidates for development.

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