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New US Guidelines on sudden unexpected death in epilepsy (SUDEP)

Wed, 04/26/2017 - 05:43

New guidelines from the American Academy of Neurology and the American Epilepsy Society, titled “Practice guideline: Sudden unexpected death in epilepsy incidence rates and risk factors” were presented at the 2017 American Academy of Neurology Annual Meeting currently being held in Boston, Massachusetts.  At the same time they were published in the journal Neurology.

Guidelines author Dr Cynthia Harden said “Our guideline bring clarity to the discussion, giving health care providers practical information they can use to help people with epilepsy reduce their risk.”  She added that it was critical for health care professionals to communicate the occurrence rate and specific risk factors for SUDEP to persons and families affected by epilepsy

After systematically reviewing all available evidence, the guideline authors concluded that every year, in the USA,  SUDEP affects 1 in 4500 children; this number increases to 1 in 1000 people in adulthood.

Furthermore, the authors found that the major risk factor for SUDEP was generalized tonic-clonic seizures (GTCS). Specifically, results indicated that individuals who have 3 or more GTCS per year were 15 times more likely to experience SUDEP than individuals who did not experience GTCS 3 or more times per year.

In light of these findings, the guideline authors recommend health care professionals treating patients with epilepsy inform them about the small risk for SUDEP (Level B), and that controlling seizures, particularly GTCS, may reduce the risk for SUDEP (Level B).

In addition, the authors recommend that for patients with epilepsy who continue to experience GTCS, “Clinicians should continue to actively manage epilepsy therapies to reduce seizure occurrences and the risk of SUDEP while incorporating patient preferences and weighing the risks and benefits of any new approach (Level B),” the guideline authors wrote.

Dr Harden noted that educating health professionals and people with epilepsy about SUDEP is an important first step. “This guideline makes the conversation much easier with information that may motivate people to take their medications on time, to never skip taking their medications, and to learn and manage their seizure triggers so they can work toward reducing seizures,” she said in the release. “People who follow their medication schedule or pursue other treatments such as surgery may be more likely to become seizure-free.”

Going forward, Dr Harden said more research is necessary to identify other preventable risk factors so that future studies can focus on finding ways to reduce the occurrence of SUDEP.

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London Marathon 2017

Mon, 04/24/2017 - 09:33

Yesterday was my first London Marathon cheering on runners for Epilepsy Research UK as CEO of the charity. The whole event was inspirational and the effort that all of the runners made was fantastic. Until you have stood and watched people running at the 24 mile mark, you do not appreciate the effort involved. I was and still am stunned. The blood, sweat, tears and strain that clearly goes into running a marathon just leaves you awestruck. Thank you all. And thanks to our supporters who came along to cheer.

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Brighton Marathon 2017

Mon, 04/24/2017 - 07:48

Our runners and supporters provide us with a non-stop feeling of inspiration. The effort to run a marathon is immense and we thank all of our runners and the people who turn up to support them. If you could not be there, here is some video of Brighton 2017.

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Stress associated with an increased risk of recurrent seizures in adults.

Thu, 04/20/2017 - 05:56

Researchers at Columbia University in New York have conducted research which shows an association between stress and an increase in recurrent seizures in adults.  Recognising that there is a limited amount of research on the relationship between epilepsy and stressors, depression and anxiety disorders the researchers wanted to see if such a link existed.

The researchers recruited patients from a low income community in New York who had either newly diagnosed epilepsy or a single unprovoked seizure.  The researchers then collected information about a number of measures of stress including environmental stress, stressful life events, psychiatric disorders and the cumulative effect of adapting to stress.

The 81 patients were then monitored for 2 years.  Almost 40% of those patients who had had an unprovoked seizure (52 patients in this group) had a further recurrence.  In the newly diagnosed epilepsy patients (29 patients in this group) almost 70% had a recurrence.

In all patients, the risk of recurrence was increased 3 fold for those with lifetime generalised anxiety disorder and 2 fold for those with lifetime mood disorder.

While a small study the researchers state that in addition to other treatment, the use of low cost stress reducing interventions such as mindfulness may be a useful addition for individuals with recognised stress disorders.

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Exercise your free Will

Wed, 04/19/2017 - 05:46

Leaving a legacy in your will to help fund research into the causes and treatment of epilepsy could have a lasting impact.  Epilepsy Research UK funds a wide range of research projects each year and we could not do that without the contributions of our supporters.  Legacies are an important part of our income and underpin some of our most important work.  Could you help make a real difference by leaving us a gift in your will?

Due to our membership of the Free Wills Network it is possible for you to get a simple Will written, or your existing Will changed, by a local solicitor at no cost to you.

There is absolutely no obligation on you to leave a gift to Epilepsy Research UK in your Will but, obviously, we hope that you do as gifts in Wills are a major source of our research funding every year.

It is a very simple process. Call us on 020 8747 5024, or email us your name and address with reply code ‘Free Wills’, and we will arrange for the National Free Wills Network to send you the names and addresses of at least two local firms of solicitors taking part in the scheme. The solicitor will then draw up your Will and you won’t have to pay the bill.

Do something you may well have been putting off. Exercise your free Will.

This is a limited offer without any obligation on those who take up the offer to include a bequest to Epilepsy Research UK.

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Research in US shows that cannabis compound may halve seizures for patients with severe epilepsy

Wed, 04/19/2017 - 05:27

Researchers from the Ohio State University have found that individuals with Lennox-Gastaut Syndrome (LGS) who took cannabidiol every day for 14 weeks saw the frequency of atonic seizures fall by more than 50 percent.

LGS is one of the most severe forms of epilepsy. The condition involves multiple types of seizures, including tonic, atonic, atypical absence, and myoclonic. Atonic seizures, also known as drop seizures, involve a sudden, brief loss of muscle tone.

Study co-author Dr. Anup Patel, of the College of Medicine at Ohio State, and colleagues recently presented their findings at the American Academy of Neurology’s 69th annual meeting, held in Boston, MA.

There is no cure for LGS, and the condition is extremely challenging to treat, as there is no one-size-fits-all approach. Anti-epileptic medications, such as valproate and lamotrigine, can help to control seizures, but many children who initially respond to such drugs develop tolerance to them later on.

However, the new study from Dr. Patel and colleagues suggests that cannabidiol may be a promising treatment strategy for LGS, after finding that the cannabis compound more than halved atonic seizure frequency in patients with the condition.

“Our results suggest that cannabidiol may be effective for those with Lennox-Gastaut syndrome in treating drop seizures. This is important because this kind of epilepsy is incredibly difficult to treat.  While there were more side effects for those taking cannabidiol, they were mostly well-tolerated. I believe that it may become an important new treatment option for these patients.”
Dr. Anup Patel

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Managing Seizures in Post-Stroke Epilepsy of Paramount Importance to Reduce Death Rates

Fri, 04/07/2017 - 05:59

Epilepsy seems to be a contributing cause of death when it develops following a stroke according to a study published in the scientific journal PLOS One. It is therefore of great importance to carefully manage seizures in people with post-stroke epilepsy.

It is known that in people with post-stroke epilepsy, seizures occur in conjunction with vascular disease but it is not known to what extent it contributes to the risk of death in this group of people. In order to understand this, researchers in Sweden analysed the cause of death in people who developed epilepsy after a stroke between 2005 and 2010.

The found that In this five-year period, 7,740 people developed post-stroke epilepsy. A total of 4,167 of these people (53.8%) died before the end of 2014. The main cause of death was disorders of the circulatory system, observed in 60% of cases. This was followed by neoplasms, or new and abnormal growths of brain tissue, occurring in 12% of cases. Epilepsy was considered a contributing cause of death in 14% of people with post-stroke epilepsy.

“Our findings highlight the importance of optimal management of [disorders of the circulatory system] in patients with post-stroke epilepsy”, wrote the authors. They added that there is also a need of “high ambition” regarding the management of seizures in people with post-stroke epilepsy.

People with epilepsy have a higher risk of death compared to the general population. But research about the causes of death in epilepsy encompasses all types of epilepsies. In order to provide better treatments to avoid death in people with epilepsy, it is important to understand its leading cause in different types of epilepsies.

Author: Dr Özge Özkaya

For more information on epilepsy after stroke you can download this PDF produced by the Stroke Association

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Fundraiser Simon Osborn claims to be “more mixed grill than Bear Grylls” as he gets ready to walk 184 miles of the River Thames

Tue, 04/04/2017 - 09:54

Epilepsy Research UK supporter and fundraiser Simon Osborn is training hard to get ready for a mammoth task.  Simon is walking the entire length of the River Thames.  The walk is a massive 184 miles.  Simon, who has epilepsy himself, is walking most of the way on his own and he expects the whole walk to take around 10 days.  In a recent interview given to the Banbury Guardian Simon described himself as “more mixed grill than Bear Grylls” but he is certainly a hero to us and has raised almost £2,000 so far.

You can read more about Simon’s walk in the Banbury Guardian.   Why not help Simon to his target?  You can donate here.

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Stress Reduction May Lower Risk of Seizures Review Article Affirms

Tue, 04/04/2017 - 05:00

Adopting stress reduction techniques may lower the risk of epileptic seizures, according to a review article published in the scientific journal Seizure.  The relationship between stress and epileptic seizures has been studied for many years and a number of scientific studies looking at this relationship have been published. Scientists have shown that stress can, not only increase the risk of sudden seizures, but in severe cases, can also increase the risk of epilepsy.

Stressful events that may trigger epileptic seizures include trauma, bereavement, natural disasters or war. It is tough that such stressors lead to higher anxiety levels in people, which in turn can trigger the development of seizures. However the exact mechanism of how stress may be triggering seizures in the brain is not well understood.

One of the authors of the study, Dr Heather Mc Kae at the University of Cincinnati said in a press release: “Stress is a subjective and highly individualised state of mental or emotional strain. Although it’s quite clear that stress is an important and common seizure precipitant, it remains difficult to obtain objective conclusions about a direct causal factor for individual epilepsy patients,”

For the present review, the scientists analysed 21 studies, which were published since 1980s, that looked into the relationship between stress and seizures.

“The earliest studies from the 1980s were primarily diaries of patients who described experiencing more seizures on ‘high-stress days’ than on ‘low-stress days,” said the co-author Dr Michael Privitera.

Other studies analysed functional magnetic resonance imaging (fMRI) data that allow scientists to identify areas of the brain that become highly active in response to external stimuli such as stressful visual and audio triggers.

The authors concluded that adopting stress reduction techniques such as controlled deep breathing, relaxation techniques, and exercise could improve people’s overall quality of life and reduce seizure frequency.

Further studies are needed however to better understand the mechanism that may link stress and seizures. This way doctors can make evidence-based recommendations about the benefits of stress reduction in reducing the risk of seizures.

Author: Dr Özge Özkaya

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Taking a “Selfie” Could Trigger Seizure-Like Activity in the Brain, Case Study Suggests

Thu, 03/30/2017 - 05:30

Taking “selfies” may trigger seizure-like activities in the brain, suggests a case study published in the scientific journal Seizure. The authors of the study Dr Paula Brna and Elizabeth Gordon at Dalhousie University in Canada suggest that taking “selfies” may represent a new area of caution for people with photosensitive epilepsies.

While conducting a routine assessment of epilepsy in young people with electroencephalogram (EEG) monitoring, the researchers noticed two sudden bursts of activity typically associated with epileptic seizures on the recordings of one teenager. The bursts of activity corresponded to the moment when the teenager had taken “selfies” on her smartphone.

Photosensitivity is a well-described phenomenon affecting a small proportion of people with epilepsy. Affected people are at risk of having a seizure when exposed to shimmering day light, strobe lights, and to lights flickering with a certain frequencies on television or computer screens.

The young person described in this study had previously demonstrated photosensitive myoclonus, or brief, shock-like, involuntary movements caused by muscle contractions triggered by light stimulation, on routine EEG.

It is not clear what exactly triggered the photosensitivity in this case. According to the authors, it could either be the phone’s flash or more likely, the flashing red light designed to reduce red eyes in the picture.

“There’s a lot of data already about selfies being potentially dangerous in some circumstances because people don’t think,” said Dr Brna, in a press release. “There are even reports about people taking selfies while driving … If you induced a seizure behind the wheel, that would be a catastrophe, potentially.”

Although this is a study that has been published in a peer reviewed scientific journal, it is important to note that it is a single case and more studies are needed to confirm these findings. However, if the phenomenon observed in this case is proven, it might be worth counselling people with epilepsy about the risks, according to the authors.

Author: Dr Özge Özkaya

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Childhood-Onset Epilepsy Could Be Linked to Accelerated Brain Ageing

Wed, 03/29/2017 - 05:00

Childhood-onset epilepsy could be associated with accelerated brain ageing, according to a new study published in JAMA Neurology. According to the authors, childhood onset epilepsy could therefore be considered a neurobiological predisposition to cognitive disorders in later life.

In order to determine whether adults with a history of childhood-onset epilepsy have an increased risk of accelerated cognitive impairment in later life, researchers led by Dr Matti Sillanpää at the University off Turku in Finland analysed 41 adults with childhood-onset epilepsy who were followed for more than 50 years from the onset of the condition, and 46 matched controls.

They found that people with childhood-onset epilepsy had increased levels of amyloid loads in their brain. Amyloids are protein fragments that accumulate in the brain with age. While in a healthy brain these proteins are broken down and eliminated, in brain disorders such as Alzheimer’s disease, they stick together and form amyloid plaques which are neurotoxic.

Interestingly, the researchers of the presents study found that people who carried a certain type of genetic variant called ε4 in their apolipoprotein E (APOE) gene had a particularly increased risk of having amyloid load in their brain in late middle age, as measured by positron emission tomography (PET) scan.

They concluded that APOE ε4 could be a biomarker indicating accelerated brain ageing  in people with epilepsy.

“Childhood-onset epilepsy appears to be associated with increased amyloid accumulation in late middle age, even among individuals in remission without antiepileptic drug therapy for decades,” the authors wrote. “The findings suggest a link between epilepsy, APOE genotype, and amyloid pathology”

They added that these findings prompt more research into brain ageing in people with epilepsy and that further follow-up with frequent amyloid assessments are needed to confirm these results.

Author: Dr Özge Özkaya

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Research sheds light onto how cellular defects caused by genetic mutation may lead to epilepsy

Mon, 03/27/2017 - 05:13

A new study published in the leading scientific journal Scientific Reports describes how cellular abnormalities caused by defects in a gene called GRIN2A may lead to epilepsy.  Understanding the exact mechanism of how seizures develop at the cellular level could help scientists design better treatments against them in the future.

It was already known that mutations in the GRIN2A gene are associated with different types of childhood epilepsies. However the exact effect of the mutations on brain cells was not well understood.

In the present study, researchers led by Dr Daniel Ursu, at Eli Lilly Research Centre in Windlesham, Surrey showed that mutations in the GRIN2A gene lead to the GRIN2A protein being trapped inside nerve cells. The GRIN2A protein is normally found on the cell surface at the junctions between two nerve cells. There, it functions as a “channel” allowing the passage of electrical signals form one nerve cell to the other.

The researchers think that in the absence of GRIN2A protein, or if the GRIN2A protein does not function properly, the passage of electrical activity is affected, increasing the risk of epilepsy.

Importantly, the team showed that it was possible to restore the activity of the GRIN2A protein using a chemical compound in cells carrying the same mutations in the GRIN2A gene as in people with epilepsy. This is an exciting finding as it suggests that it may also be possible to restore the function of the GRIN2A in patients, offering a potentially treatment against seizures.

“This study is important as it shows that mutations in GRIN2A cause the protein produced to malfunction in different ways, leading to epilepsy,” said the first author of the study, Dr Laura Addis in a press release. “By understanding exactly what is going wrong in children with defects in GRIN2A, we can now try to work out what medicines target the pathways in the nerve cells that aren’t working properly”.

Professor Deb Pal at the Institute of Psychiatry, Psychology & Neuroscience at King’s College London and a co-author of the study added: “Personalised medicine is the future of epilepsy treatment and will involve prescribing treatments based on the specific effects of a patient’s genetic defect”. He said that scientists need to develop methods to screen different medicines to see if they can restore the function of the defective GRIN2A protein. “As the mutations cause the protein to malfunction in different ways, we will need to work out strategies for the different types of effect,” he explained. “Some medicines will need to be able to get the protein to the cell surface, whereas others will need to make the protein work more, or less effectively, depending on the type of mutation.”

Author: Dr Özge Özkaya

 



 

What is GRIN2A?  Information from the US National Library of Medicine

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New Set of Recommendations for Better Diagnosis and Management of Dravet Syndrome Developed

Tue, 03/14/2017 - 05:33

A consensus panel of epilepsy specialists, experts in Dravet syndrome, and parents of children with Dravet syndrome came together to develop a set of recommendations for the better diagnosis and management of the condition.  The recommendations were published in the journal Pediatric Neurology.

“We were able to identify areas where there was strong consensus that we hope will (1) inform health care providers on optimal diagnosis and management of patients with Dravet syndrome, (2) support reimbursement from insurance companies for genetic testing and Dravet syndrome-specific therapies, and (3) improve quality of life for patients with Dravet syndrome and their families by avoidance of unnecessary testing and provision of an early accurate diagnosis allowing optimal selection of therapeutic strategies,” the authors wrote.

The panel consisted of 13 physicians and five family members who had an enhanced experience and understanding of the condition through the active roles they were playing in Dravet syndrome associations. Three rounds of online questionnaires were conducted to identify areas of consensus and contention about the diagnosis and management of Dravet syndrome.

Strong consensus was reached among panelists in the following areas: typical clinical presentation of Dravet syndrome, range of EEG and MRI findings, need for genetic testing, critical information that should be conveyed to families at the time of diagnosis, priorities for seizure control, factors triggering seizures and recommendations to avoid these, first- and second-line therapies for seizures, requirement and indications for rescue therapy, specific recommendations for screening for other diseases that may co-occur at the same time as Dravet syndrome, and the need for family support.

Consensus was not as strong regarding later therapies, such as vagus nerve stimulation and surgery, and for specific therapies of associated diseases.

Apart from the initial treatment with drugs called benzodiazepines and the use of valproate, no consensus was reached on the best way to manage convulsive status epilepticus in a hospital setting.

Dravet syndrome is a type of childhood epilepsy affecting around one in 40,000 to one in 20.000 children. It is characterised by prolonged seizures that may require emergency intervention. It is usually managed with antiepileptic drugs (AEDs) but these may not be able to suppress seizures completely.

Author: Dr Özge Özkaya

 

What is Dravet Syndrome?

Support for Dravet Syndrome in the UK

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Link Between Epilepsy and Multiple Sclerosis Uncovered, Could Help Scientists Develop New Treatments for Both Conditions

Mon, 03/13/2017 - 12:50

Researchers at the University of California uncovered a potential new link between epilepsy and multiple sclerosis (MS), an auto-immune disease where the immune system attacks the myelin sheath that covers nerve fibres.  This new finding could lead to potential new treatments against epilepsy as well as MS.

The study that was published in the journal Neuroscience, showed that people with MS were three to six times more likely to develop epilepsy than the general population. When nerve cells loose their myelin, they are not able to function properly. When this happens in a subset of nerve cells called parvalbumin interneurons, whose role is to prevent hyperactivity, seizures occur.

To test whether it is really the loss of myelin that cause seizures in MS, researchers led by Dr Seema Tiwari-Woodruff fed mice a compound called cuprizone, which is known to damage the myelin-producing cells in the nervous system. They saw that after nine weeks, the mice started having seizures.  “Without myelin, axons are vulnerable,” explained Dr Tiwari-Woodruff in a press release. “In both MS and our mouse model, parvalbumin interneurons are more vulnerable and likely to die. This causes the inhibition to be removed and induce seizures.”

When the researchers stopped feeding cuprizone to the mice, the nerve fibres started becoming myelinated again. However it is not know if this decreases seizures.

“Does remyelination affect seizure activity? Could we accelerate the remyelination with drugs? …We are interested in addressing these questions,” Dr Tiwari-Woodruff said.  She added that they now have a mouse model with which they can work to test and suggest some therapeutic cures. Such drugs aimed at reducing neuronal hyperactivity could reduce the incidence of seizures and could help both epilepsy and MS patients.

Author: Dr Özge Özkaya

What is Myelin?
Myelin is a fatty white substance that surrounds the axon of some nerve cells, forming an electrically insulating layer. It is essential for the proper functioning of the nervous system. It is an outgrowth of a type of glial cell. The production of the myelin sheath is called myelination or myelinogenesis.

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Classification of Epilepsies Updated

Thu, 03/09/2017 - 07:14

The International League Against Epilepsy (ILAE) recently updated the system used to classify different types of epilepsy. It is hoped that the new system will pave the way to better research, diagnosis, and treatments in epilepsy.

In a press release, Professor Ingrid Scheffer, a paediatric nephrologist and professor at The University of Melbourne said: “The new classification will help clinicians to think more deeply about each patient so that they can improve their care with optimised treatment and understanding of their disease. It will also be used for research into the epilepsies and to frame collaborative approaches that will lead to greater insights into this important group of diseases.”

It is important to have a thorough classification system as “applying the right therapy often depends upon knowing the precise type of seizure,” according to Dr Robert Fisher, the director of the Stanford Epilepsy Center. The last classification related to epilepsy was published in the 1980s and failed to capture many types of seizures.

According to Dr Fisher, the new classification system may also help patients and families better understand the name of their seizures. “[F]or example, a ‘focal aware seizure’ is more understandable than is the old term ‘simple partial seizure’,” he said.

The 2017 ILAE seizure classification includes the whole clinical picture of epilepsy underlining the potential causes of the condition. Groupings the different types of seizures in this way could lead to the advancement of research and the development of potential new treatments.

Three research articles outlining the changes in the new classification and providing guidance on how to use it in clinical practice have been published back to back in the scientific journal Epilepsia. They are titled “Operational Classification of Seizure Types by the International League Against Epilepsy”, “ILAE classification of the epilepsies. Position paper of the ILAE Commission for Classification and Terminology”, and “Instruction Manual for the ILAE 2017 Operational Classification of Seizure Types”.

Author: Dr Özge Özkaya

Bottom logo links to the British Chapter

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Brain Connectivity Different in People with Epilepsy

Wed, 03/08/2017 - 05:55

Brain connectivity in people with epilepsy and those without are different showed a study published in the journal Human Brain Mapping. According to the researchers this finding could lead to a better understanding of epilepsy and help scientists develop new therapies in the future.

The team led by Professor Marina Vannucci, Noah Harding Professor and Chair of Statistics at Rice University in Houston, Texas found that while in people without epilepsy there seem to be structures that plan and then activate movement in one direction, people with epilepsy harbour abnormal bidirectional interactions between brain structures.

The team used a novel statistical approach to analyse the brain of people with and without epilepsy to reveal how different areas of the brain interact with each other. First they conducted functional magnetic resonance imaging (fMRI), which produces maps of the brain based on blood flow and highlights areas of high activity. Then, they conducted standard MRI to obtain information about detailed structural connections in the brain thought to be necessary for effective communication. Combining both data sets, statisticians modelled links between structures in the brains of people with epilepsy and compared these with each other and with the brains of people without epilepsy.

In a press release Prof Vannucci said: ”The statistical approach has advantages. One is that we use data from multiple subjects. Rather than estimating networks from individuals and then averaging them, we estimate networks at the epileptic and control group levels by using all the data at once. Then we can look for differences between the two networks and across time. We take into account what we call heterogeneity, accounting for variations between one individual and another. It allows us to get better estimations. At the end of the day we have fewer false positives, so the network we are able to construct is more reliable. Ultimately, we want to understand what is different about that connectivity and the effect of epilepsy on the connections across the whole brain”.

Results obtained from fMRI data confirmed the presence of several previously known connections but also revealed novel connections in the brain of people with epilepsy, including two-way communications between different areas of the brain.

The first author of the study, Sharon Chiang added: ”Currently, surgical resection is the treatment of choice for some patients with medically refractory epilepsy. However, if drivers in these networks can be identified and possibly stimulated, rather than completely resected, this may potentially allow a more targeted treatment.”

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