Gathering the data on epilepsy

Last week’s conference on epilepsy focused on understanding as well as treating the condition, writes CLAIRE O'CONNELL

Last week's conference on epilepsy focused on understanding as well as treating the condition, writes CLAIRE O'CONNELL

WE STILL have a lot to learn about epilepsy, and research is sorely needed to better understand what causes the condition and how best to treat it in individual patients. That was the message from the 2nd National Epilepsy Research Conference, hosted last week by Epilepsy Research Ireland (ERI) at the Royal College of Surgeons in Ireland.

About 40,000 people in Ireland are thought to have epilepsy, in which a person can have recurrent, unprovoked brain seizures. And while there are now more than 20 anti-epileptic drugs available, about a third of patients have hard-to-treat epilepsy, according to Dr Norman Delanty, a consultant neurologist at Beaumont Hospital, who spoke at the conference.

“People think epilepsy is a disease of babies and young children, but epilepsy can affect anybody at any age,” he says. “And every patient is different and every situation is different. We know very little about epilepsy, and this is why we need more research.”

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Research can include basic investigations into how epilepsy develops – which it can after brain injury or infection, or due to genetic factors, or both – while the more clinical side of research gathers data about patients to improve treatments, and analyses health services to make them better, explains Dr Colin Doherty, clinical lead for the National Epilepsy Care Programme and a consultant neurologist at St James’s Hospital.

“The technology to image the brain and to analyse genetics has improved beyond recognition in recent years,” says Doherty, ERI’s medical director, who also addressed the conference.

Research is now pointing to electrical imbalances in the brain being an issue in epilepsy, and studies are trying to find molecular signatures that could predict whether an individual patient would respond well to a particular drug therapy. “We are trying to find tiny needles in haystacks the size of the Empire State Building,” says Doherty. “And the ultimate goal is a blood test that would tell you which drug the person should take to treat the epilepsy. That is the holy grail.”

Health services research can also help, adds Doherty, pointing out how the introduction of electronic patient records for patients at Beaumont Hospital with epilepsy is making treatment more time-efficient and enabling clinical studies. “Improving care is not all about resources – research into innovations in care delivery are just as important,” he says.

As part of the conference, members of the audience got the chance to give their scores for each of seven 10-minute presentations about research projects competing for a bursary. “It is important that people understand that while there’s a lot happening at the clinic, behind the scenes there are researchers who are trying to get an advanced understanding of epilepsy,” says Doherty.

One study, at RCSI, wants to look at the effects of seizures on the human brain both in the short and long term. The idea is that when people come into the emergency department due to a brain seizure, they could consent to go for MRI scans 24 hours, six weeks and six months after the event so the study could see if there’s damage, and if so, whether it persists.

Meanwhile, research at St James’s Hospital is looking at whether our body’s ability to control the normal variations in blood pressure could be reduced in epilepsy.

For children with the condition, a study in the National Children’s Research Centre in Crumlin is exploring the genetics behind why some patients gain weight as a side effect of a widely used anti-epileptic drug.

And for the youngest patients experiencing seizures – newborns – research at RCSI is examining a new way to protect the brain. The pre-clinical study is looking at how to target a “gate”-like protein involved in brain cell activity.

Projects also included a study of cognitive function in people with epilepsy and their unaffected siblings, and a proposed evaluation of fitness to drive in people diagnosed with epilepsy.

But the winner of the €1,000 bursary from ERI was Dr Ged O’Connor from RCSI, who is looking for genetic factors associated with epilepsy in Irish families affected by the condition. So far the study is finding marked variation between individuals in families, and has already revealed new genetic mutations associated with epilepsy in an Irish context.

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