Around 60,000 babies, children and young people under 18 years old have epilepsy in the UK.[1,2] FGF12-related epilepsy is a rare and severe epilepsy affecting babies and children with frequent seizures, delayed development and a shortened life expectancy. Dr Amy McTague of UCL Great Ormond Street Institute of Child Health is searching for cutting-edge gene therapies that can precisely target the root cause of this condition. She hopes her laboratory work will ultimately lead to an effective new treatment that can help control seizures and reduce disability – improving the lives of children and their families affected by this challenging type of epilepsy.
How are children’s lives affected now?
Sodium channels play an important role in the ability of nerve cells in the brain to generate and transmit electrical signals. When these channels don’t function properly, it can lead to abnormal activity in the brain, causing seizures and developmental challenges.
“Children born with FGF12-related epilepsy typically experience severe and frequent seizures beginning very early in life,” says Dr McTague. “As they grow, they may start missing their developmental milestones – and sadly, some may have a reduced life expectancy.”
This rare condition is caused by faults in the FGF12 gene, which contains the instructions to make a protein that helps regulate sodium channel activity. While some common epilepsy drugs work by blocking these channels, they don’t work for everyone.
There is an urgent need for new therapies that can help to improve the lives of children with FGF12-related epilepsy who currently have very limited treatment options.
How could this research help?
“We aim to identify promising gene therapies that could be developed into effective new treatments for children with FGF12-related epilepsy,” says Dr McTague.
The researchers have recently identified 10 children with FGF12-related epilepsy and studied their treatment responses and outcomes. They will now use skin cells donated by patients and reprogramme them into stem cells, which can develop into any type of cell in the body.
“We will convert these cells into nerve cells so we can test their electrical properties and work out how faults in the FGF12 gene cause epilepsy,” says Dr McTague.
The team will then test cutting-edge gene therapies designed to precisely target and correct the faulty FGF12 gene – to see if any can correct the underlying problem in nerve cells.
“As some other severe epilepsies are also caused by problems with sodium channel function, these treatments could also ultimately benefit many more children in the future,” says Dr McTague.
Research table
Project details
| Project Leader | Dr Amy McTague, MBCHB PhD |
| Location | Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health |
| Project Team |
Dr Serena Barral, PhD
Professor Gabriele Lignani, PhD |
| Other Locations | Clinical & Experimental Epilepsy, UCL Institute of Neurology |
| Grant Awarded | |
| Grant Amount | £199,526 |
| Start Date | TBC |
| End Date | TBC |
| Duration | 27 months |
| Grant Code (GN number) | GN3074 |
References
1. Epilepsy Action, Epilepsy facts and terminology; https://www.epilepsy.org.uk/press/epilepsy-facts-and-terminology [website accessed 20 January 2025].
2. Office for National Statistics; Estimates of the population for the UK, England and Wales, Scotland and Northern Ireland - Office for National Statistics (ons.gov.uk) [website accessed 07 January 2025].
We do not provide medical advice. If you would like more information about a condition or would like to talk to someone about your health, contact NHS Choices or speak to your GP.