Epilepsy: Searching for Genetic Causes | Action Medical Research | Children's Charity

Epilepsy: searching for genetic causes

First published on 24 August 2009

Updated on 10 June 2013

What did the project achieve?

“Around one in three children with epilepsy have seizures that are difficult to control with existing medications,” explains Professor Sisodiya.1 “In many cases, it’s not been possible to explain why these children have epilepsy or why treatment isn’t working for them. We found that eight per cent of these children have some genetic changes, called copy number variants or CNVs, which seem to be causing their epilepsy.”

This important discovery is already benefiting children. “Children with epilepsy are now being offered tests to find out whether they may have the sort of genetic changes that we, and others, have discovered,” explains Professor Sisodiya. “If they do, it may sometimes be possible to tell the children and their families more about what type of epilepsy they are suffering from, why they’ve got it and what their seizures might be like in the future. This information can be invaluable in itself, for the children and their families. It can also make it easier to access appropriate support services.”

Further research is planned or ongoing, explains Professor Sisodiya: “In many cases, we still don’t know what’s causing children’s epilepsy, so we are looking for other genetic changes and investigating how they cause seizures.” This work could ultimately lead to better treatment.

This research was completed on 21 June 2012

Up to 58,000 children have epilepsy in the UK.1 Sadly, about one in three children carry on having seizures despite trying all suitable drugs.2 Even if medication does work, it can cause unpleasant side effects. Researchers are investigating the genetic causes of epilepsy. Their findings could boost their chances of developing better treatments, with fewer side effects, so more children can live seizure-free.

What's the problem and who does it affect?

Seizures and side effects

About 58,000 children and teenagers under the age of 18 have epilepsy in the UK.1 That’s one in every 242 children.1

Many children find medication can control their seizures. Sadly though, medication does not work for everyone. Around one in three children carry on having seizures despite trying all suitable drugs.

Seizures can be scary and troublesome, affecting many aspects of daily life. They usually happen unpredictably, interrupting whatever the child is doing at that time, meaning some activities, such as climbing, swimming or riding a bike, are not always safe.

Uncontrolled epilepsy can disrupt children’s schooling, hamper their intellectual and social development, complicate relationships, and weigh down heavily on family life. It can cause lasting harm that continues into adulthood, damaging future employment prospects and preventing them from driving a car when they are old enough.

Even if medication does stop a child’s seizures, it can have unpleasant side effects. Some children, for example, suffer sleepiness or changed behaviour. Side effects can prove problematic and difficult to tolerate, especially as children often remain dependent on drug treatment for the rest of their lives.

What is the project trying to achieve?

Hunting for genes

At the moment, it is often unclear why a child has developed epilepsy. The underlying disease processes that cause their seizures are not normally fully understood.

Research has revealed that specific changes – or mutations – in certain genes can cause epilepsy. These findings mostly relate to rare forms of epilepsy that follow an obvious inheritance pattern and affect only a small proportion of children with epilepsy.

Most cases of epilepsy do not have a known genetic cause, or follow an inheritance pattern that is far less obvious. The researchers are hoping to boost our understanding of what causes some of these more common forms of epilepsy in childhood. They are looking at the DNA of 500 children with epilepsy to see if they can find genetic changes that might cause the children’s seizures. They are focusing on children who carry on having seizures despite trying all available medication, as they have the most to gain from any new drugs.

What are the researchers' credentials?

Project LeaderProfessor S M Sisodiya MA PhD FRCP
Project team
  • Professor J Helen Cross MB ChB PhD FRCPCH FRCP
LocationDepartment of Clinical and Experimental Epilepsy, UCL Institute of Neurology
Other locations
  • Neurosciences Unit, Institute of Child Health, University College London
Duration2 years
Grant awarded23 July 2009
Start date22 February 2010
End date21 June 2012
Grant amount£176,240.00
Grant codeSP4437, GN1747

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The project team is at the forefront of research into the genetic causes of epilepsy. This study focuses on children, using cutting-edge techniques to detect changes in the children’s genetic makeup. The researchers have already used the same techniques, with success, in one of the largest studies so far into the genetic causes of epilepsy in adults, a study that has identified several genes that seem to have links with epilepsy.

The researchers in the team have complementary expertise that puts them in an excellent position to succeed in this project. The project leader, Professor Sanjay Sisodiya, has a successful track record in the research needed to identify genetic changes in DNA. Professor Helen Cross is highly experienced in working with children whose epilepsy does not respond well to existing treatments. Important collaborations with expert researchers from around the world make them a formidable team.

Who stands to benefit from this research and how?

Improved understanding, better treatments

The researchers hope to find more of the genetic changes that cause epilepsy. They are focusing on two groups of children: one group with a form of epilepsy called Lennox-Gastaut syndrome and another with a form called refractory focal epilepsy, who continue having seizures despite trying all suitable drugs.

If successful, this research could improve diagnosis, so more children know precisely what type of epilepsy they are suffering from and why they’ve got it.

Follow-up studies into how the genetic changes lead to seizures could bring even greater benefits. They could help explain why different children respond to drugs in different ways – why some stop having seizures while others do not – so we can make better use of existing drugs. They could also help explain why some children grow out of their epilepsy while others can find their illness gets worse with age.

Perhaps most importantly, the researchers believe in the longer term their work could direct and accelerate the development of brand new treatments. Better treatments, which free more children from seizures and bring fewer side effects, could offer lasting benefits, transforming the lives of large numbers of children forever.

References

  1. Joint Epilepsy Council of the UK and Ireland. Epilepsy prevalence, incidence and other statistics. March 2005
  2. Berg AT, Shinnar S, Levy SR, et al. Two-year remission and subsequent relapse in children with newly diagnosed epilepsy. Epilepsia 2001;42:1553-62.
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