Scientists discover new gene linked to drug-resistant epilepsy
Research identifies a gene that may be linked to focal cortical dysplasia, a common cause of drug-resistant epilepsy.
New research has identified changes (mutations) in a gene called FOXJ3 that may be linked to focal cortical dysplasia, a common cause of drug-resistant epilepsy. This means seizures aren’t controlled by medication.
The research, involving scientists from Taiwan, Belgium and the UK, has been supported by the Epilepsy Society and the Amelia Roberts Fund.
The FOXJ3 gene plays an important role in brain development before birth. It helps control how brain cells multiply and what type of brain cell (neuron) they become, which is important for forming the correct layers of the brain.
The researchers included Professor Sanjay Sisodiya and Helena Martins Custodio from the Epilepsy Society’s Chalfont Centre and the Research Department of Epilepsy, UCL. They found that when this gene does not work properly, brain cells can keep dividing for longer than they should and may not move to their right place in the brain, as they normally would. This can lead to a small part of the brain being disorganised, a change called focal cortical dysplasia.
The researchers also discovered that FOXJ3 controls another gene called PTEN, which helps regulate cell growth, cell size, and cell survival. When FOXJ3 changes, it cannot properly switch on PTEN. This can cause neurons to become abnormally large, which is a common feature seen in the brain tissue of people with focal cortical dysplasia.
The study also suggests that increasing PTEN levels may help correct some of the brain development problems caused by FOXJ3 mutations.
This research is helping scientists to better understand how the brain develops and to identify a possible genetic cause for some types of epilepsy. It also highlights potential areas for future research that could help improve diagnosis or treatment.
Professor Sisodiya said: “Collaborations with researchers across the world are helping push forward a better understanding of how our genes may contribute to epilepsy. We need to carry out more research in this area, but I hope that it will help to guide future diagnosis and treatment for people with some types of epilepsy.”
Find out more
You can read more at Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination | Nature Communications