Publish Date: 
Thursday, August 6, 2020 - 10:45

World first genetic and environmental risks identified for common form of childhood epilepsy

A new study of childhood epilepsy has identified maternal smoking in pregnancy as an important risk factor, and discovered a new genetic association with the condition.

  • TRI researchers were part of an international epilepsy study
  • The team discovered a genetic association for one of the most common forms of childhood epilepsy, Benign Childhood Epilepsy with Centrotemporal Spikes (BECTS)
  • Maternal smoking was found to be an environmental risk factor for children developing BECTS

An international team of clinicians and scientists, including Translational Research Institute (TRI)-based scientists from The University of Queensland Diamantina Institute and the Queensland University of Technology, led the research.  

The study focussed on one of the most common forms of childhood epilepsy, Benign Childhood Epilepsy with Centrotemporal Spikes (BECTS). Around 1% of children globally suffer with epilepsy with around 15% of those affected by BECTS.

The study team used genome-wide complex trait analysis to examine and explain the most common type of genetic variations in people with BECTS. They found, for the first time, that BECTS is associated with a gene called CHRNA5.

Genetic variations within CHRNA5 are linked with nicotine dependence and smoking associated lung disease. This, along with suggestive evidence that smoking increases the risk of epilepsy, led the team to perform an analysis between risk factors and disease using data from independent genome-wide association studies from a UK Biobank.

The analysis demonstrated that maternal smoking during pregnancy quadrupled the risk of BECTS. This is the first-ever environmental risk factor identified for the disease.

One of the study scientists, Professor Matt Brown from King's College London said: "The new evidence in our study showing that common genetic variants play an important role in BECTS susceptibility opens up immense research possibilities to better understand how epilepsy is caused.”

“Maternal smoking in pregnancy being identified as the first ever environmental risk factor described in the development of BECTS offers a very clear message to clinicians and mothers about what can and should be done to limit the risk of children developing this common form of epilepsy," he said.

"With the association of the CHRNA5 gene which encodes a cholinergic receptor expressed in the brain involved in BECTS risk, our research also suggests that a class of drugs called 'anticholinergics' may be effective in the treatment of BECTS, however, further research into this is needed."

The research was published in The Lancet publication, EBioMedicine. TRI-based authors on the paper include Dr Geng ‘Jack’ Wang, Associate Professor Paul Leo, Mr Gabriel Cuella Partida and Mr Mischa Lundberg.

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