Estimates suggest that around 70,000 babies, children and young people under the age of 18 years are living with epilepsy in the UK. Several rare inherited disorders of vitamin B6 metabolism can cause childhood epilepsy. While a child’s seizures can usually be controlled with lifelong supplementation with vitamin B6, many will still have delayed development and learning disabilities. Dr Karin Tuschl and Professor Philippa Mills of UCL Great Ormond Street Institute of Child Health are working with a team of researchers studying the underlying biology behind vitamin B6-dependent epilepsies. Their work could lead to new ways to help prevent disability and improve the quality of life for children affected by rare or common types of epilepsy in the future.
How are children’s lives affected now?
Vitamin B6, which is normally present in our diet, is essential for our brain to work effectively. It is required to make chemicals – called neurotransmitters – which are used to pass messages between nerve cells. Unfortunately, some children are born with rare genetic disorders that cause a deficiency of vitamin B6 needed by the brain.
“These children can’t transmit messages between their nerve cells properly – causing seizures and in some children prevents their brain from developing normally,” says Dr Tuschl. “While supplementation with vitamin B6 is usually effective at stopping seizures, it doesn’t address other neurological symptoms that can impact the long-term quality of life of affected children.”
Researchers also do not currently understand why some children with other types of epilepsy can benefit from vitamin B6 treatment too, despite having no obvious problems with its metabolism.
“Understanding the role of vitamin B6 in the brain is crucial, as it could lead to the development of new treatments for children with vitamin B6-dependent epilepsy,” says Professor Mills. “It could also pave the way for its potential use as a general anti-seizure medication for children with epilepsy in the future.”
How could this research help?
The researchers will use cutting-edge imaging technologies in the laboratory to study in great detail what is happening inside the brain during seizures.
“We hope to identify the exact brain cells that are affected by the lack of vitamin B6 and determine how the transmission of messages between brain cells is disrupted,” explains Professor Mills.
This research has the potential to uncover novel processes that could be targeted with new therapies, as well as help to identify other types of epilepsy that may benefit from vitamin B6 treatment.
- Young Epilepsy: Information about epilepsy; www.youngepilepsy.org.uk/what-we-do/health-research/information-about-epilepsy [website accessed 6th June 2023]
- 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 6th June 2023]
- Epilepsy society; https://www.epilepsysociety.org.uk/learning-disabilities#.WqExWejFJPY [website accessed 6th June 2023]
|Project Leader||Dr Karin Tuschl, MD PhD|
|Location||Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London|
Professor Philippa Mills, PhD
Dr Richard E Rosch, PhD
Dr Isaac H Bianco, PhD
Professor Stephen Wilson, PhD
Wellcome Centre for Human Neuroimaging, University College London
Department of Neuroscience, Physiology and Pharmacology, University College London
Department of Cell and Developmental Biology, University College London
|Grant Code (GN number)||GN2964|