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Updated: 2 hours 14 min ago

Exposure to AEDs in the Womb Does Not Increase the Frequency of GP Visits

Fri, 02/24/2017 - 08:02

Children whose mothers used antiepileptic drugs (AEDs) while pregnant are not more likely to visit their GP during their childhood, according to a population-based study by Danish scientists.

It is important to note that the study only analyzed the frequency of primary healthcare visits and did not take into account complications such as malformations at birth and neurological and psychiatric disorders later in life, found to be associated with the use of AEDs by the mother, in previous studies.

Instead, the present study only looked at the general health of children whose mothers used AEDs while they were pregnant and compared this to that of children who were not exposed to AEDs before birth.

The team of researchers led by Dr Bodil Hammer Bech, at Aarhus University in Denmark identified all babies born in Denmark between 1997 and 2012 and followed them until 31 December 2013, through the Danish National Patient Register. They found that 963,010 babies were born in this period of time.

The researchers obtained information on whether or not the babies were exposed to AEDs before birth from the Danish Register of Medicinal Product Statistics. This revealed that 4,478 children (0.46%) were exposed to AEDs before birth.

The team then analyzed the number of GP visits for reasons other than routine checks and vaccinations. They found that children who were exposed to AEDs before birth had 3% more GP contacts during the study period compared to children who were not exposed to AEDs before birth. This was primarily in the form of phone contacts. The researchers did not find any difference between children who were exposed to AEDs before birth and those who were not, in terms of specific services provided by the GP.

The first author of the study Anne Mette Lund Würtz said in a press release: ”Our results are generally reassuring for women who need to take anti-epilepsy medicine during their pregnancy”.

The analysis took into account factors such as the child’s gender and date of birth, the mother’s age, the family’s income level, education status, the presence of any mental illnesses, the use of psychiatric medicines and insulin, and substance abuse.

The results were published in the scientific journal BMJ Open.

Author: Özge Özkaya

How do AEDs work? from Rose Thompson on Vimeo.

Categories: What's Current?

Novel Candidate Gene Linked to Myoclonic Epilepsy Identified

Thu, 02/23/2017 - 03:55

An international team of researchers identified a new candidate gene linked to myoclonic epilepsy in people while examining dogs with generalised myoclonic epilepsy syndrome. The findings were published in the leading scientific journal Proceedings of the National Academy of Sciences (PNAS).  This discovery might not only help doctors better diagnose myoclonic epilepsy but could also lead to the development of new therapies to treat this type of epilepsy. Moreover, the dog model could help scientists better understand the condition.

What is Myoclonic Epilepsy?

The senior author of the study, Professor Hannes Lohi said in a press release: “The genetic backgrounds of myoclonic epilepsies are not well known yet, and our study provides a new candidate gene, which helps to further characterise the underlying pathophysiology in future studies. This would be important for the development of new treatment scenarios.”

 The co-first author Riika Sarviaho added: “We found a novel epilepsy gene, DIRAS1, which has not been linked to any neurological diseases before. The gene is poorly characterised so far, but some studies suggest that it may play a role in cholinergic neurotransmission, which could be a highly relevant pathway for the myoclonic epilepsies.”

 Cholinergic neurotransmission is the passage of information from one nerve cell to the other via a chemical called acetylcholine, Acetylcholine also plays an important role at the neuromuscular junction, where nerve cells connect with muscle cells controlling their contraction, hence the muscle jerks observed in myoclonic epilepsy.

DIRAS1 is widely expressed in the brain and previous works suggests that it may be regulating the release of acetylcholine and play a role in development of the nervous system. Further research is needed to better understand the role of DIRAS1 in neurotransmission.

Myoclonic epilepsy is one of the most common forms of epilepsy characterised by shock-like jerks in a muscle or groups of muscles. The myoclonic epilepsy observed in the dogs is very similar to human juvenile myoclonic syndrome in many aspects and the study might have meaningful implications for epilepsy research both in dogs and in humans, according to the authors.

Author: Dr Özge Özkaya

Categories: What's Current?

New Scoring Method Could Eliminate Unnecessary Distress to Children with “Staring Spells”

Wed, 02/22/2017 - 01:16

Researchers in the U.S. developed a new scoring system that can help doctors prioritise which patients should receive long-term video-EEG monitoring to evaluate whether staring spells are epileptic seizures.

Staring spells are episodes where children appear to stare into space and do not respond if spoken to or touched. These spells are the main symptom in patients with absence seizures and account for 10-17% of childhood-onset epilepsy. They are a common reason for a child to be referred to neurology services for overnight epilepsy monitoring. However overnight monitoring is time-consuming, expensive, and can cause distress to both children and their families.

Researchers led by Dr Jack Stevens at Nationwide Children’s Hospital and Ohio State University in Columbus performed a four-year chart review of all children who received long-term monitoring in one centre to characterise staring.

“The two goals were a) assess how often [a long-term monitoring] admission captured a staring spell that was diagnosed as a seizure and b) determine if any baseline factors predicted this particular positive result,” the researchers wrote.

Long-term monitoring was able to capture only 29 staring spells in all 276 patients who were referred for monitoring, and diagnose it as seizures. This is just a little more than 10% of all cases. Importantly, the researchers were able to predict whether or not staring spells would be diagnosed as seizures before the long-term monitoring. This was thanks to the scoring system they developed based on the following criteria: most recent EEG results, parental reports of the duration, frequency, and breakability of the staring events. Factors such as the mental status of the children following seizures, the presence or absence of automatisms, previous neurological and psychiatric diagnoses and medications, and family history of epilepsy were also considered.

The score of a child was calculated as follows: − 3 points if the previous EEG was normal, − 1 point if the child took any drugs for a psychiatric condition, + 1 point if the child took an antiepileptic drug (AED) for epilepsy, and + 1 point if the spells lasted less than one minute. If the total score was zero or less, staring spells were rarely diagnosed (in less than 5% of cases) during long-term monitoring.

“Our scoring system shows how consideration of prior EEG findings, medication history, and staring spell duration can help prioritise patients for [long-term monitoring admission] to evaluate if staring spells are epileptic seizures,” the authors concluded.

They added that the scoring system can only be an addition to clinical judgment on when children should be referred for long-term monitoring, and cannot replace it. It is important to note that factors predicting the outcome of the prediction may be different from one patient group to the other and across different centres. Therefore a comprehensive approach should be adopted when evaluating patients before admission to long-term monitoring. Further research in more than one centre is needed to evaluate the validity of the scoring system proposed in the present study.

The study was published in the journal Epilepsy and Behavior.

Author: Dr Özge Özkaya


Categories: What's Current?

Some Forms of Epilepsy Could Be Autoimmune in Nature, Suggests Study Linking Parasitic Infection and Nodding Syndrome

Fri, 02/17/2017 - 04:15

Some forms of epilepsy such as nodding syndrome, could be autoimmune in nature according to a study published in the journal Science Translational Medicine.

“The findings … suggest that therapies targeting the immune system may be effective treatments against this disorder and possibly other forms of epilepsy,” said the senior author of the study Dr Avindra Nath who is also the clinical director of the NIH’s National Institute of Neurological Disorders and Stroke (NINDS), in a press release.

Nodding syndrome is a form of childhood epilepsy seen in certain areas of East Africa. It is characterised by head nodding, seizures, severe impairment in thinking ability and restricted growth.

The cause of the condition remained a mystery until now. The present study suggests that the condition might be caused by an immune response triggered by a parasitic worm called Onchocerca volvulus, which then attacks the body’s own nervous system.

For the study, Dr Nath and colleagues compared blood samples from children with nodding syndrome and children without, who all lived in the same village in Uganda. They found antibodies in the blood of children with nodding syndrome, which recognised proteins from the parasitic worm as well as a protein called leiomodin-1. Leiomodin-1 antibodies were also present in the fluid covering the brain and the spinal chord of the children with nodding syndrome.

Leiomodin-1 is highly expressed in human nerve cells grown in the laboratory and is also found in certain areas of the mouse brain. These areas of the brains are the counterparts of the areas in the children’s brain that were affected by nodding syndrome.

When the researchers treated normal nerve cells grown in the laboratory with serum from nodding syndrome patients, they saw that the nerve cells died suggesting that the serum of the children contains a factor that was toxic for nerve cells. In order to test whether this factor could be leiomodin-1 antibodies, the researchers treated the nerve cells with the antibody directly and obtained the same results: the nerve cells died. And when they treated the nerve cells with serum from which the leiomodin-1 antibodies had been removed, the nerve cells survived

The researchers concluded that nodding syndrome may be an auto-immune epileptic disorders triggered by infection with a parasitic worm. The antibodies that the body produces to fight off the parasite wrongly recognise a protein found in the nerve cells and attacks them.

According to the authors, more research is needed to better understand the role of leiomodin-1 in healthy people and people with epilepsy.

Author: Dr Özge Özkaya

What is Nodding Syndrome?  This information is from the WHO website
Nodding syndrome (NS) is a neurological condition with unknown etiology. It was first documented in the United Republic of Tanzania (URT) in the 1960s, then later in the Republic of South Sudan in the 1990s and in northern Uganda in 2007. Typically, NS affects children between the ages of 5 and 15 years old, causing progressive cognitive dysfunction, neurological deterioration, stunted growth and a characteristic nodding of the head. Despite numerous and extensive investigations in all three countries, very little is known about the cause of the disease.

To date, Nodding Syndrome is known to occur in the southern region of the United Republic of Tanzania (URT) (Mahenge mountains, Ulanga District), South Sudan (Western Equatoria State, Eastern Equatoria State, Central Equatoria State, and Lakes State) and northern Uganda (Pader, Kitgum and Lamwo districts, with new cases starting to present in Gulu, Amuru, Oyam and Lira districts).

Jilek et al (1962) first described several children with attacks of “head nodding” in Mahenge, a region in URT. The current burden of NS in URT is unknown but observations during case control studies in 2005 and 2009 in the Mahenge region do not suggest a notable increase in the number of cases relative to those detected in the late 1950s and early 1960s.

Samaritan Purse, a local NGO, described observations of head nodding among several children in southern Sudan in the Lui and Amadi villages of East Mundri County in the mid-1990s. A physician from Samaritan Purse reported the outbreak to WHO in 1997. The 2001-2002 investigations by WHO and partners estimated the prevalence of NS at 4.6% among a small population in Western Equatoria State, which appeared to have the highest burden of the illness. By 2003, an estimated 300 cases had been reported from this region. The Ministry of Health of South Sudan estimates the current burden of NS at between six and seven thousand cases, but no systematic large-scale prevalence study has been conducted. The Mundri region in the northeast of Western Equatoria is the presumed epicentre for the disease.

In 2008 and 2009, an illness consistent with NS was reported from Kitgum and Pader Districts in northern Uganda. As of February 2012, Uganda has reported over 3 000 cases of NS from the three districts of Kitgum, Lamwo and Pader. A community survey is underway in Uganda to determine the real burden of NS in the affected districts. Kaiser et al (2009) referred to a phenomenon of head nodding observed in the Kabarole District in Western Uganda as possibly constituting a feature of an epileptic syndrome caused by Onchocerca volvulus (O. volvulus).

The prevalence of both onchocerciasis and epilepsy in the areas affected by NS is high. The affected populations are impoverished and experience regular and prolonged periods of severe food shortages. In South Sudan and in northern Uganda, affected populations have a history of internal displacement and living in internally displaced persons (IDPs) camps.

Familial clustering has been observed in some families with NS patients, with more than one sibling with NS and/or siblings or relatives with other forms of epilepsy.

The age of onset in the vast majority of cases ranges between 5 and 15 years old, but cases have been reported in children as young as 2 years old and in adults up to 32 years old. There is no observed significant difference in the proportion of males to females among the affected, nor is there an observed seasonal variation.

Categories: What's Current?

Sub-type of Brain Cell Linked to Brains Tumours and Epilepsy

Thu, 02/16/2017 - 05:33

The formation of a specific type of brain cell during the progression of brain tumours is also linked to the development of epileptic seizures, according to a study conducted on mice and published in the leading scientific journal Nature Neuroscience.  This knowledge can help scientists better understand how brain tumours cause epilepsy and potentially help them develop new approaches that can prevent or even treat the condition.

“We do not understand exactly how malignant cells cause seizures, or why seizures persist after tumor surgery,” said one of the senior authors of the study, Dr Jeffrey Noebels, professor of neurology, neuroscience, and molecular and human genetics at Baylor College of Medicine in Texas, in a press release.

Dr Noebels and colleagues were studying normal brain cells and in particular a type of brain cell called astrocytes. These are start-shaped cells that fulfil a broad range of roles including biochemically supporting other cell types in the brain cells, providing nutrients to the brain, and repairing the nervous tissue following injury. They are also crucial for the formation of synapses or connections between neurons.

Astrocytes are often considered to be just one type of cell, but researchers identified five distinct sub-types of astrocytes based on the molecules found on their surface. They thought that the different sub-types may be responsible of fulfilling different roles in the brain.

They then looked at the brain of a mouse model of glioma, or brain cancer. They saw that as the tumor grew, neighbouring cells became more excitable, and eventually the mice started to have seizures. This correlated with the emergence of one of the five sub-populations of astrocytes. Strikingly, this sub-population expressed a significant number of genes linked to epilepsy.

Dr Benjamin Deneen, associate professor at Baylor explained: “[A]s the tumor evolves, different subpopulations of astrocyte-like cells develop within the tumor and execute distinct functions that are related to two important tumor characteristics, synaptic imbalance that can lead to seizures, and tumor migration that can lead to tumor invasion of other tissues”.

Dr Noebels added he is excited that for the first time, it is possible to study the earliest effects of tumours on the brain before seizures even start. “These studies would be a major advance in patient care, allowing clinicians to bypass precious months spent searching for effective therapy to stop seizures. Because seizures themselves damage brain tissue, timely effective therapy is of the essence,” he concluded.

Author: Dr Özge Özkaya

What is an Astrocyte
The video below from the Khan Academy gives a good and accessible overview of astrocytes.

Categories: What's Current?

Potential New Target to Treat Epilepsy Identified

Wed, 02/15/2017 - 07:47

A new study published in the leading scientific journal PNAS may shed light onto why people with the same type of epilepsy-causing mutation may have symptoms that vary so dramatically in severity.

Previous research has shown that mutations in a gene called SCN2A, which encodes for sodium channels found on the surface of cells, are the most common cause of genetic epilepsy. However people with the same mutation in the SCN2A gene may experience seizures of very different severity and frequency.

Researchers think that this might be due to the effect of other genes known as genetic modifiers, which may be different between people.

In the present study, a team led by Dr Alfred George Jr. at Northwest University in Chicago studied the variability in seizure severity using a mouse model of epilepsy. They compared mice that had different degrees of epilepsy severity even though they had the same mutation in the SCN2a gene. Importantly, the animals came from different laboratory strains and had different genetic backgrounds.

When they analysed the properties of the animals’ brain cells, the researchers found that the brain cells of the animals more severely affected by epilepsy were more excitable than those of animals less severely affected.

On further analysis, the researchers uncovered that sodium channels on the surface of these cells were behaving differently in more and less severely affected animals. This different “behaviour” was modulated by an enzyme called calcium/calmodulin protein kinase II (CaMKII).

When they blocked the activity of the CaMKII enzyme, the researchers saw that the hyper excitability of the nerve cells was suppressed.

They concluded that blocking CamKII activity could constitute a new approach to treat epilepsy.

In a press release, Dr George said: “Not only did the findings explain the varying severity of epilepsy, but they also revealed a previously under appreciated pathway by which brain sodium channels are regulated — something that could be exploited for therapy.”

The researchers are now working on finding out whether this result can be generalised to mutations on other genes and models of epilepsy.

Author: Dr Özge Özkaya

Categories: What's Current?

Side and Site of Brain Surgery Affects Psychological Outcome

Wed, 02/08/2017 - 05:00

The side and site of epilepsy surgery affects its psychological outcome according to a new study published in the journal Epilepsy and Behavior.

This finding highlights the importance of considering psychological changes that may occur as a result of epilepsy surgery, on an individual patient basis.

According to the authors, further studies are needed to identify potential risk factors that may make the symptoms of surgery more severe. Further research could also help provide patients with counselling before surgery and identify those who may be most in need of psychological surveillance following surgery.

For the study, the team of researchers led by Dr Robyn Busch, a clinical psychologist at Cleveland Clinic Epilepsy Centre analysed 228 adults with epilepsy who underwent temporal lobe or frontal lobe brain surgery. The patients completed the Personality Assessment Inventory (PAI), which provides an objective assessment of adult psychological problems, both before and after surgery.

The researchers then compared the psychological outcome of the operation between people who had surgery on the left side of their brain versus those who had right-sided surgery.

They found that people with left temporal lobe epilepsy had higher PAI scores (i.e. more psychological problems) before the operation compared to those with left frontal lobe epilepsy. Following surgery, the psychological problems, which included anxiety and depression, usually improved although a small subset of patients reported that their symptoms became worse after surgery. The most frequent improvements were seen in those undergoing temporal lobe surgery.

The researchers concluded that the side and site of brain surgery in epilepsy are important factors in determining the psychological outcome of the operation in adults. They stress that it is important to identify the risk factors that may be associated with the worsening of the symptoms seen in a subset of patients after surgery.

It is estimated that 20 to 40% of people with epilepsy are diagnosed with at least one form of psychological disorder and this percentage can be as high as 70% in people with drug resistant epilepsy. Previous studies have shown that depression is more frequent in people with a seizure focus on the left side of the brain.

Author: Dr Özge Özkaya

Click here for more articles about conditions related to epilepsy.


Categories: What's Current?

Children and Young People with Temporal Lobe Epilepsy More Likely to Have Mental Health Problems

Tue, 02/07/2017 - 05:00

Young people with temporal lobe epilepsy are more likely to have mental health conditions than those with other types of epilepsy, a new study published in the scientific journal Epilepsy and Behavior suggests.

According to the authors Dr William Schraegle and Dr Jeffrey Titus, these findings reinforce the relationship between depression and temporal lobe epilepsy.

In order to determine whether the region of the brain causing the epilepsy (i.e. the seizure focus) had an impact on rates of psychiatric conditions, the researchers looked at data from 132 children and adolescents aged between six and 18 years with either generalised or partial epilepsy. Those with partial epilepsy had either frontal lobe epilepsy or temporal lobe epilepsy.

The researchers measured the rates of depression, anxiety and withdrawal behaviours using two questionnaires: the Behavior Assessment System for Children (BASC-2), a measure of a caregiver’s perceptions of a child’s emotional and behavioural functioning, and the Quality of Life in Childhood Epilepsy (QOLCE) scale.

The results showed that almost half of the children (41%) had evidence of a psychiatric condition.  The rates of these conditions were similar between children with generalised epilepsy and those with partial epilepsy and did not differ depending on the side of the brain (i.e. left or right) from which the epilepsy arose.

However, when the researchers compared children with temporal lobe epilepsy against those with frontal lobe epilepsy, they found that those with temporal lobe epilepsy had higher rates of depression.

In addition, increased numbers of antiepileptic drugs used and higher depression scores, as assessed by their parents, were also associated with a reduction in health-related quality of life in children with temporal lobe epilepsy.

Children and young people with epilepsy often have additional psychiatric problems such as depression and anxiety associated with their epilepsy. It is important that these problems are examined carefully as they can reduce the patient’s overall quality of life.

Author: Dr Özge Özkaya

Click here for more articles about conditions related to epilepsy.


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Upcoming Event in Glasgow: Rare Disease Day

Mon, 02/06/2017 - 05:00

This event is the first of its kind in Glasgow, held at the University of Glasgow, on the 28th February 2017. The day has a neurological / genetics theme with a number of local speakers with a specialism in epilepsy.

The event is open to the public and is free to attend but registration is essential.  Policy makers, researchers, clinicians, charities or anyone with an interest in the area are also welcome.

Lunch, tea and coffee will be provided. Click here for more information.


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Re-interpreting results of “controversial” EEGs may be Useful, Study Finds

Fri, 02/03/2017 - 05:00

Re-interpreting the results of “controversial” electroencephalogram (EEG) results leads to a different opinion in more than half of the cases, according to a new study published in the journal Clinical Neurophysiology.

The study also found that re-interpreting existing EEG results is less time consuming and more cost effective than obtaining a new EEG.

The diagnosis of epilepsy often relies on a combination of clinical information and findings from EEGs and brain scans. When these investigations are inadequate or where there are inconsistencies, there is a risk of mis-diagnosing the epilepsy.

In order to assess the diagnostic value and effectiveness of re-interpreting EEG results, researchers led by Dr Machiel Zwartsa at Kempenhaeghe Epilepsy Centre in The Netherlands, re-classified the EEGs of 100 people with epilepsy, the results of which were considered to be inconsistent with the clinical diagnosis of the patients.

To evaluate the effectiveness of the re-interpretation process, the researchers included a matched control group of patients in whom a new EEG was performed but no re-interpretation of the earlier EEGs was undertaken. They assessed the diagnostic value of the re-interpretation using questionnaires, and the costs by calculating the number of technician hours required.

The clinical conclusions reached from previous EEGs were known for 85 patients and for 43 of these (50.6%), the re-interpretation led to a change in those conclusions.

In 23 cases, the presence of epileptic activity in the brain changed from positive to negative (17 cases) or from negative to positive (six cases). In 15 cases, the site of origin of the epilepsy was revised and in five cases the epilepsy syndrome changed altogether.

Fifty-seven percent of the patients whose EEGs were re-interpreted did not need new EEGs. Almost all re-interpretations (96%) were considered useful by the neurologists who had initially requested a second EEG and 72% of them were also considered useful by other neurologists not directly involved in the study.

The average time spent by a technician interpreting new EEG results was almost nine hours per patient. This was reduced to five and a half hours when the technician was re-interpreting existing EEG data.

The researchers concluded that re-interpreting “controversial” EEGs is worthwhile. They advise that in cases where there is conflict between clinical information and EEG findings, it is more cost-effective and less time-consuming to re-evaluate existing results than to request a new EEG.

Author: Dr Özge Özkaya

Click here for more epilepsy research news.

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Different Mutations in the Same Gene Can Result in Epilepsy or Autism

Thu, 02/02/2017 - 05:00

Mutations in a gene called SCN2A can cause either infantile epilepsy or autism spectrum disorder (ASD) according to a new study published in the journal Biological Psychiatry.

SCN2A is responsible for making a protein called NaV1.2 in the brain. NaV1.2 determines the electrical properties of neurons and their ability to communicate with each other, especially during early brain development. Mutations in SCN2A that cause a reduction in NaV1.2 activity lead to ASD, whereas mutations that cause increased activity of NaV1.2 lead to epilepsy.

In a press release, one of the senior authors of the study Dr Stephan Sanders said: “The genetics of neuropsychiatric disease is often complicated, but here we have a single gene in which specific mutations can cause either infantile seizures or autism in a consistent and predictable manner. This gives us an opportunity to understand both what these disorders have in common and what makes them different.”

In this study, the researchers from the University of California San Francisco, Lawrence Berkley National Laboratory and the University of Puerto Rico, analysed 11 different mutations in the SCN2A gene that were originally discovered in children with ASD. The team studied how those mutations affected the function of NaV1.2 in human cells grown in the laboratory.

They saw that all mutations reduced the activity of the protein, but depending on their location on the gene, they either inhibited the production of the protein or blocked its function. The researchers then used these data to develop computer models predicting how these mutations, together with those that had previously been reported to cause infantile seizures, would affect the behaviour of nerve cells, especially during development.

They found that while the mutations seen in children with infantile seizures made the neurons more excitable, those seen in children with ASD made them “unwilling” to send electrical signals.

The lead author of the study, Dr Roy Ben-Shalom said: “It was remarkable to see how consistently neuronal function was disrupted by these different mutations [which] all affected the [protein] in slightly different ways, but they ended up affecting neurons in almost exactly the same way.”

According to the authors, these findings are a first step toward understanding how different subtle changes in neuronal function inside the mother’s womb might lead to the development of either a seizure-prone brain or an autism-prone brain in infancy.

Author: Dr Özge Özkaya

Click here for more articles about brain science including genetics.

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Marathon Men Charity Lunch

Tue, 01/31/2017 - 05:33

This spring James Brady, Jack Carr & James ‘Beans’ Low, Lyle’s very own #MarathonMen, are going to be running in the London marathon in memory of Tom Moulton in aid of Epilepsy Research UK.

So aside from training ahead of the marathon, the lads now need to raise some funds! Enter the #MarathonMen Charity Lunch.

On Sunday 12th February the boys will be hosting a lunch at Lyle’s,Tea Building, 56 Shoreditch High Street, London, E1 6JJ.

James Brady will be cooking a three-course set lunch, and you will receive the finest of service from the other two men, Jack Carr and James Low.

Tickets to the #MarathonMen Charity Lunch are £29 and include the menu and a drink on arrival. All profits go to support epilepsy research. For sample menus, dietary info and to book your tickets, please contact the boys via email.

Illustration by Florence Poppy Deary


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Sleep and Memory Consolidation in Children with Focal Epilepsy

Fri, 01/27/2017 - 05:00

Researchers have shown for the first time that sleep-related memory consolidation is intact in a group of children with focal epilepsy.

It is known that children with epilepsy have high rates of impairment in both cognitive function (including memory) and sleep. Therefore doctors have previously assumed that sleep-dependent memory consolidation might be compromised in children with epilepsy. Not so, apparently.

“Our results suggest that sleep-related memory consolidation is an extremely robust mechanism,” wrote Dr Samantha Chan and co-authors of study that was conducted at Great Ormond Street Hospital (GOSH) in London and published in the journal Epilepsia.

The team analysed 22 children with focal epilepsy aged 6 to 16 years, and 21 children of the same age without epilepsy.  In the evening, before bedtime, the children were taught groups of words (verbal task) and shown the location of objects on a flat surface (visuospatial task). The next morning, following a night’s sleep, the children were asked to remember the words and the position of the objects.  The process was then repeated, this time with the initial training in the morning and recall at the end of the day. The team then compared the retention of memory in the morning and in the evening for each child.

In children without epilepsy, the researchers found that, as expected, memory retention was greater in the morning, after a night’s sleep, for both verbal and visuospatial tasks, when compared with recall at the end of the day. Moreover, children with longer periods of slow-wave sleep (when memory consolidation occurs) had better memory retention in the verbal task.

Interestingly, the scientists observed that memory retention was also greater after a night’s sleep in children with epilepsy. However, when the rate of abnormal electrical activity in the brain (recorded by EEG) was high at night, sleep-dependent memory consolidation in both verbal and visuospatial tasks were reduced.

The researchers also found that children with the longest duration of epilepsy and those whose seizures arose from the temporal lobe, an area of the brain that is important for making sense of speech, had poorer verbal and visuospatial memory consolidation during the day and were therefore more dependent on sleep for good overall memory retention.

The researchers concluded that sleep enhances memory consolidation to the same degree in children with focal epilepsy as in children without epilepsy and that the most likely factor affecting memory retention is night-time electrical discharges happening in-between seizures.

Author: Dr Özge Özkaya

Click here for more news articles about epilepsy in children.


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People with Epilepsy Using Perampanel (FycompaTM) Should Be Closely Monitored due to Increased Risk of Falls, Study Suggests

Thu, 01/26/2017 - 05:00

People with epilepsy taking perampanel (FycompaTM) should be counselled and monitored against the risk of falls according to a study published in the journal Epilepsia.

The recommendation is based on the finding of three Phase 3 clinical trials testing the safety and efficacy of different doses of perampanel in people with drug resistant partial seizures and one Phase 3 clinical trial testing the drug in primary generalised tonic clonic seizures.

The study systematically reviewed the occurrence of falls in 1,480 people with drug resistant partial seizures and 163 people with primary generalised tonic clonic seizures aged 12 years and over. Falls that were the result of a seizure were not included in the analysis.

The results showed that 5.1% of people with drug resistant partial seizures experienced falls related to perampanel treatment, compared with just 3.4% of those treated with placebo (or dummy pill). For people with primary generalised tonic clonic seizures, these proportions were 2.5% and 1.2% respectively. Falls were also more common in those on higher doses of perampanel.

The researchers concluded that people with epilepsy taking perampanel should be closely monitored due to the increased risk of falls. “Clinicians need to be aware of and counsel patients about the potential for an increased risk of falls when treating with perampanel, especially at higher doses,” wrote Dr Ilo Leppik, who led the study.

However the authors added that in spite of the increased risk of falls, especially in the elderly, higher doses of perampanel could also provide a benefit in controlling seizures and reducing their frequency. “Appropriate treatment should be individualized by taking the patient profile into consideration,” they wrote.

Perampanel is sold under the trade name FycompaTM and used in combination with other antiepileptic drugs to treat partial seizures and generalized tonic clonic seizures in people with epilepsy aged 12 and over.

Side effects associated with the use of the drug include dizziness, somnolence, fatigue, aggression and irritability, as well as increased risk of falls.

Author: Dr Özge Özkaya

Click here for more articles about anti-epileptic drugs and pregnancy risks.

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Posterior Cortex Epilepsy Surgery More Likely to Lead to Seizure Freedom When Performed Early

Wed, 01/25/2017 - 05:00

Surgery performed in an area of the brain called the posterior cortex is highly effective in controlling seizures and in leading to the discontinuation of antiepileptic drugs (AEDs) in children and adolescents with epilepsy, according to a study published in the scientific journal Epilepsia.

Interestingly, the sooner surgery is performed after the diagnosis of epilepsy, the more likely it is that patients will remain seizure free as a result.

According to the authors of the study, their findings emphasize the importance of considering brain surgery relatively early in young patients with drug resistant (or refractory) posterior cortex epilepsy.

The research team was led by Dr Thomas Bast at Epilepsy Center Kork in Germany and analysed data from 50 children and adolescents with drug resistant posterior cortex epilepsy who underwent surgery during which a portion of their brain was removed. All of the children apart from one had an area of abnormality (a lesion) in their brain that was visible in the MRI scan before surgery.

The patients were followed for eight years on average after surgery. Sixty percent of them remained seizure free in this period of time. Around one third of patients discontinued their AEDs following surgery and, one fifth reduced their use. In cases where seizures recurred, 70% happened in the first six months following surgery. Only three patients had a seizure recurrence two or more years after surgery.

Children for whom the seizure-causing region was on the left side of the brain or in a region called the parietal lobe were more likely to have recurrent seizures. Likewise, those with a longer duration between diagnosis and surgery were more likely to have a recurrence of their seizures after surgery.

“Our study demonstrates that posterior cortex epilepsy surgery is highly effective in terms of lasting seizure control and antiepileptic drug cessation in selected pediatric candidates”, wrote the authors. “Most importantly, our data supports the early consideration of surgical intervention in children and adolescents with refractory posterior cortex epilepsy”.

Around one third of people with epilepsy do not respond to currently available AEDs. Some of these people with so-called drug resistant epilepsy can benefit from brain surgery.

Author: Dr Özge Özkaya

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Barnsley FC player Angus MacDonald taking on the London to Paris cycle

Tue, 01/24/2017 - 05:31

Angus MacDonald is fundraising for Epilepsy Research UK. Angus, whose sister has epilepsy, has decided to cycle from London to Paris in June 2017 to support our research.

Angus says, “ My sister Sophie was first diagnosed with epilepsy 6 years ago, when she was 22. To be honest, I’d never really known much about epilepsy until then and witnessing that first  seizure was a frightening, emotional experience.

I’d do anything for Sophie, so realising the lack of awareness around this condition and how many people it affects, I wanted to make a stand and raise awareness as soon as possible. I jumped at the chance both to challenge myself and raise money along the way so I did the London to Brighton cycle ride. I’m now taking this further by attempting the London to Paris one on June 1st this year.

Since Sophie was diagnosed, it’s obviously had a big impact on the family – we’re very close and, as with anyone you care for and love, there’s always that worry. However, we don’t let it affect our everyday lives – my sister wouldn’t want it and it’s important that it doesn’t define your life.

I was made aware of Epilepsy Research UK through a friend and, by reading through social media posts and all the news on their website, I made a decision that this was the charity I wanted to support; I’m now raising awareness and funds in whatever way I can.

I would say to anyone out there that suffers with epilepsy, don’t be afraid to come forward and talk to people about it. I’m lucky to have a fantastic bond with my sister and we love each a lot so putting the effort into this and raising money for research just makes sense to me and is easy to do. “

Angus has set up an online sponsor page, and has already gained a huge amount of support via twitter!  If you’d like to support Angus in his fundraising you can do so here.

Our huge thanks go to Angus and his family for fundraising for our research, and we look forward to supporting him in his London to Paris cycle.

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Adult Human Neurons Grown in the Laboratory for the First Time

Tue, 01/24/2017 - 05:00

Researchers have managed to grow adult human neurons in the laboratory for the first time. According to the authors of a study published in Cell Reports, these cells could be used to understand the effect of antiepileptic drugs (AEDs) on the brain and might impact treatment of epilepsy in the future. They could also be used to understand how neurons connect with each other by regulating the expression of certain genes.

The tissues used in the study, which was led by Dr James Eberwine at the University of Pennsylvania, were donated by seven people who had undergone brain surgery either as a treatment for epilepsy or to remove brain tumours.

From these tissues, the researchers identified multiple different types of brain cells, including oligodendrocytes, microglia, endothelial cells, astrocytes and neurons, as well as the proteins that they produce. Of greatest significance was the ability to grow neurons, which had previously been thought impossible.

In a press release, Dr Eberwine said: “We were surprised that we could grow these neurons at all. The oldest tissue came from a donor who was in their mid-sixties. This is even more surprising because neurons don’t divide, so they need to last a lifetime. We are finally able to characterize adult aged cells from the most enigmatic organ of the body – the seat of learning and memory, as well as consciousness.”

The team identified more than 12,000 genes that were expressed in these various cells, hundreds of which were only expressed in certain cell types. Interestingly, the cells obtained from each donor had a different pattern of gene expression, which caused the authors to comment on “…the importance of taking a personalized medical approach for evaluating and treating each patient”.

The age of the people who provided the tissues ranged from 20 to 60 meaning that the cells could also help scientists understand how ageing affects the brain, something that has only been studied in animals so far.

Studying neurological conditions such as epilepsy and developing drugs to treat them is challenging. This is the first time that scientists have been able to generate a full range of brain cells, including neurons, from living donors and to use them to study how those cells connect and communicate.

Author: Dr Özge Özkaya

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Restless Leg Syndrome Could Be an Early Sign of a Seizure

Mon, 01/23/2017 - 10:54

Restless leg syndrome (RLS) or the urge to move the legs, is more common in people with epilepsy than the general public, according to a study published in the scientific journal Epilepsy and Behavior. The authors suggest that the syndrome could in fact be an early warning indicator for seizures.

The study also showed that RLS seems to occur more often in people with right temporal lobe epilepsy than in those with left temporal lobe epilepsy. This means that the presence of RLS could help doctors predict which the side of the brain is responsible for the epilepsy in some patients.

For the study, researchers led by Dr Paul Carney, a child neurologist at the University of North Carolina, screened epilepsy patients seen at an outpatient clinic between 2005 and 2015 for movement disorders. They evaluated the patients using the International Restless Legs Study Group questionnaire and the NIH RLS diagnostic criteria. They also measured iron levels in their blood, since a low level of iron is a risk factor for RLS, and performed a polysomnography, which is a comprehensive sleep-screening technique.

Almost 100 patients seen in the clinic in this period of time had focal-onset temporal lobe epilepsy. Half of these had right-sided temporal lobe epilepsy and half had left-sided temporal epilepsy. The results showed that moderate-to-severe RLS occurred in 21 of 50 (42%) people with right temporal lobe epilepsy and in 7 of 48 (15%) people with left temporal lobe epilepsy.

The researchers calculated that people who had right temporal lobe epilepsy were more than four times as likely to have RLS as those with left temporal lobe epilepsy. Interestingly, some patients experienced a sensation of worsening RLS before seizures. This is important because it could provide doctors with the opportunity to intervene at an earlier stage before a seizure develops.

RLS, also known as the Willis-Ekbom disease, is a disorder of the nervous system occurring in around 10% of the general population. Although scientists don’t know its exact cause, they think that it could be due to an imbalance in dopamine in the brain, a chemical that sends messages to control muscle movement.

Author: Dr Özge Özkaya

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AED Adherence Could Improve Quality of Life and Sexual Functioning in Women with Epilepsy

Mon, 01/23/2017 - 05:00

Adhering to antiepileptic drugs (AEDs) improves seizure control but can also enhance quality of life and sexual functioning in women with epilepsy, according to a study published in the journal Epilepsy and Behavior.

“Healthcare providers should be aware of these additional benefits of medication adherence and use these arguments to encourage female patients to take their medication, which can eventually increase their sexual satisfaction and overall [quality of life],” wrote Dr Chung-Ying Lin and the co-authors of the study.

The team assessed quality of life and sexual functioning in 576 Iranian women with epilepsy using the Quality of Life in Epilepsy questionnaire and the Female Sexual Function Index respectively. They also measured epilepsy severity using the Liverpool Seizure Severity Scale and medication adherence both subjectively (using the Medication Adherence Report Scale) and objectively (by measuring drugs levels in the participants’ blood).

The results showed a positive correlation between scores from the Medical Adherence Report Scale and those from the Quality of Life in Epilepsy questionnaire.  In other words, greater adherence with medication was associated with improved quality of life. Medication adherence scores were also correlated with overall sexual functioning, and, in turn, improved sexual functioning was associated with improvements in quality of life.

The researchers recognised that there is a complex relationship between medication adherence, seizure control, quality of life, and sexual functioning. Nevertheless, their results indicate that the benefits of AED adherence extend beyond reduction of seizures into other aspects of well-being.

Sexuality is an important component of quality of life. It is estimated that around 20-30% of women with epilepsy experience some form of sexual dysfunction such as decreased sex drive or problems with arousal and infrequent orgasms. Factors that may influence sexual functioning in epilepsy include anxiety, stigmatization, and epileptic activity in the brain.

Author: Dr Özge Özkaya

Click here for more articles about anti-epileptic drugs and pregnancy risks.


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PAR1 Involved in Regulating Anxiety-Related Behaviour

Sat, 01/21/2017 - 05:00

A major receptor found in the brain called PAR1 is involved in the regulation of anxiety-related behaviour, suggests a recent study, published in the journal Epilepsy and Behavior.

The study used an animal model of temporal lobe epilepsy (TLE), the most common type of focal epilepsy in adults, which is often associated with psychiatric complications such as depression and anxiety. However, the mechanism of anxiety-related deficits in people with epilepsy are unclear.

The findings are important because they suggest that PAR1-dependent signalling may be associated with emotional disorders in people with epilepsy and that targeting PAR1 signalling might open a new therapeutic avenue to help prevent cognitive problems related to anxiety in TLE.

The research, led by Dr Elena Isaeva at Bogomoletz Institute of Physiology in Kiev, Ukraine, involved inducing epilepsy in rats, which led to a decrease in anxiety-related behaviour of the animals and an increase in their general activity.

When the researchers blocked PAR1 shortly after inducing epilepsy, they saw that the normal anxiety-related behaviour of the animals was restored but the increase in their activity remained unchanged. In rats with epilepsy, blocking PAR1 had a less pronounced effect on memory recall than in control rats and also showed a modest beneficial effect on learning.

The team concluded that PAR1 inhibition in the normal brain is harmful whereas blocking PAR1 in animals with epilepsy may be therapeutic.

“The present study shows for the first time ……. the involvement of PAR1 in the regulation of anxiety-related behaviour”, the researchers wrote.

PAR1, or protease-activated receptor 1, is involved in behaviour and memory formation. It is expressed in areas of the brain that are important for processing emotional reactions and is implicated in the regulation of emotionally-motivated learning.

Author: Dr Özge Özkaya

Click here for more articles about conditions related to epilepsy.


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