Twins’ story helps unlock epilepsy mystery

Imagine this: a neurological condition more common than Parkinson’s disease, cerebral palsy, multiple sclerosis, and muscular dystrophy combined. Well, there’s no need to imagine – it’s called epilepsy.   

Image supplied by Epilepsy Action Australia

Around the world, it’s estimated that 65 million people will have epilepsy, with the cause for 50% of those people remaining unknown. If it’s so prevalent, why don’t we hear about it more often?    

Epilepsy is a neurological condition where the individual experiences recurrent seizures. These seizures are caused by a temporary disruption of the electrical activity in the brain. It is a severely misunderstood condition, with people often picturing convulsions and foaming at the mouth. However, seizures can present in numerous ways depending on the type of epilepsy the person has.  

The first diagnosis of epilepsy dates back 4000 years. Treatment for this condition has long since evolved, with researchers today treating the disease with everything from medication to brain surgery.  

One person who has made a significant contribution to epilepsy research is Sam Berkovic – neurologist and Director of the Epilepsy Research Centre at Austin Health. Professor Berkovic found his passion in epilepsy due to the under-researched nature of the condition.  

“I did post-graduate training in Montreal, where there was a strong focus on genetics. I was able to get access to a historic cohort of twins which got me interested in genetics in epilepsy,” he said.

While epilepsy isn’t more common in twins than others, using twins or people from the same gene pool provides an unprecedented insight into the condition – one which Prof Berkovic wanted to investigate further.  

“When I returned to Australia, I linked up with the NHMRC Twin Registry, as it was called then and began my own work on Australian twins with epilepsy which I’ve been working on since 1989,” he said.

Perhaps one of the most significant findings to date is that of the origins of the condition. Twenty or so years ago, doctors believed that most forms of epilepsy were acquired rather than inherited.  

It was thought that epilepsy occurred from injury – be it a car accident, a bad fall, a tumour, etc. In 1995, Prof Berkovic and his team proved otherwise.  

“One of my most monumental achievements in my research was the discovery of the first gene for epilepsy. This was the seminal thing that changed thinking, which probably remains my most important research achievement to date.”  

A key factor in this study was observing twins and family members with the condition in the hope of finding a genetic link.  

“Twins are a very powerful way to probe important clinical evaluations in a simple way. You’ve got these two individuals that are identical – with or without a shared environment – where you can figure out the causation of diseases through that. This is very important as causation leads to understanding the basic agenesis, which leads to new treatments,” Proof Berkovic said.

For this research, Prof Berkovic worked with his team alongside the Twins Research Australia (formerly known as the NHMRC Twin Registry) team. Founded in 1981, Twins Research Australia (TRA) is Australia’s foremost national twin research institute and is recognised as a world leader in this field. 

TRA marketing communications lead Lynette Walker has been with the company for more than 12 years, experiencing firsthand some of the radical changes and research that has occurred in this time and the significance of the organisation. 

“TRA provides a valuable contribution that is unique in medical research. It brings twins and researchers together for vital health research that not only benefits twins but all Australians,” she said.

“We have contributed to important insights into just about every known medical condition, including diabetes, obesity, heart disease, epilepsy, asthma, cancer and mental health. There is no more powerful way to investigate genetic and environmental influences on health and disease than twins research.”

Members of the TRA and participants in many of its studies are identical twins Graeme and Greg Knorr. Now aged 58, the pair have been impacted by epilepsy for more than 30 years. At the age of 27, their world plunged into new territory when Greg was diagnosed with an epilepsy type that affects both sides of his brain.  

Graeme can still remembers the moment he witnessed his brother’s first seizure and how he thought he was dying.  

“When he had his first seizure, we were working together in a retail store. He was vacuuming the floor before opening when I came out of the back office and found him having a seizure on the floor. Having had no history of epilepsy, I thought he was dying – it scared the crap out of me!” Graeme said.

“I rang an ambulance, and they carted him off to the Austin Hospital. After numerous tests (they thought it may have been a brain tumour at the time), they finally diagnosed him with epilepsy.” 

Following the diagnosis, Graeme faced an anxious wait to see if he would suffer the same fate.  

“Over our lifetime, we seem to get the same illnesses and health concerns – first one of us and then soon after, the other would get it. This included tonsils (same time), hernias (same side and position within six weeks) and prostate cancer (I had no symptoms, but fortunately, Greg’s surgeon told him to advise me to get checked). Sure enough, I had it, too. As it turned out, epilepsy was the only thing I didn’t get diagnosed with.” 

For the 30 years that followed, Graeme and Greg have participated in numerous epilepsy and brain function studies and questionnaires run by the TRA, including a couple to try and induce a seizure in Graeme.  

“Initially, I participated in a 24-hour sleep deprivation test and a strobe light test to see if that would trigger a seizure in me. Neither of them did. We have been involved with the Twin Registry since our early teens (about 45 years now). Greg was lucky that at the Austin, he came under Professor Sam Berkovic and his team, and we have done quite a bit of stuff with them over the years since,” Graeme said.

Despite the fear Graeme experienced seeing his brother have his first seizure, it’s not the same memory for Greg, who recalls his last grand mal seizure more vividly.  

“After being out in the sun for a very long period of time (approximately 17 years ago), I was feeling quite nauseous, and then I collapsed in my ensuite and had a seizure, losing consciousness for about a minute. Once I regained consciousness, my body felt very heavy and lethargic, and I had to completely rest for a couple of weeks after it.” 

Although his seizures are well-controlled, Greg lives with symptoms of epilepsy. “While I experience memory loss and constant fatigue, my medication keeps me stable and allows me to continue in my current job, including driving. I lead a fairly normal life and am able to travel without issues.” 

Greg is one of the lucky ones who can manage the condition with medication and other precautions. Still, others aren’t so fortunate, with many requiring brain surgery, vagus nerve stimulation (VNS) and medical cannabis to manage the condition.  

People who experience regular seizures often experience other conditions, such as anxiety, depression and a loss of independence, as they may lose the ability to drive or even go to work.   

Despite being a highly prevalent neurological condition, many people wouldn’t know what to do if they came across someone having a seizure. Because of this, Epilepsy Awareness Month remains on the calendar to raise awareness and reduce stigma.       

Lynette Walker from the Twin Registry Australia celebrates Epilepsy Awareness Month and hopes it will continue to shine a light on a highly stigmatised condition.  

“Twins and our researchers have contributed to discoveries about epilepsy and made a difference to millions of people with epilepsy in Australia and around the world,” she said. We congratulate Epilepsy Awareness Month on its incredible work over 55 years. We continue our support through research into epilepsy prevention, diagnosis and care.”

November 2023 marked the 55th anniversary of Epilepsy Awareness Month

To learn more, head to the Epilepsy Action Australia website.   



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