There may be a link between a rare heart condition known as long QT syndrome (LQTS) and a risk of having epileptic seizures, according to a study published in the scientific journal Neurology. This means that by screening for the genes that cause LQTS, clinicians could potentially predict someone’s risk of seizures.
The study authors say that this is an example of how ‘looking outside the classic organ of interest’ can sometimes be helpful in tackling a certain condition.
In a press release, First Author Dr David Auerbach, Senior Instructor of Medicine at the University of Rochester Medical Center, said: “You could begin applying these findings today by telling physicians treating LQTS patients to look outside the heart.”
Using the Rochester-based LQTS patient registry, which contains information about more than 18,000 people with LQTS and their family members, the researchers analysed 965 people with three different LQTS-causing mutations, and 936 people without any LQTS mutations.
They found that all of the LQTS mutations were associated with similar heart rhythm characteristics, but very different seizure frequencies. Seizures were a lot more common in people with LQT1 or LQT2 mutations than in those with LQT3 or no mutation, and people with LQT2 were at greatest risk of having seizures.
When the researchers looked into the LQTS-causing genes in more detail, they saw that the risk of seizures, and of heart arrhythmias (abnormal heart rhythms), was influenced by the specific location of the mutation on the genes. For example, in some cases a mutation in a certain location increased the risk of seizures and arrhythmias, but the same mutation on the same gene but in a different location decreased the risk.
LTQS is a rare genetic condition in which repolarisation of the heart is delayed after a heartbeat, resulting in fainting and sometimes even sudden death. Mutations in three different genes are associated with LQTS: KCNQ1 (LQT1), KCNH2 (LQT2), and SCN5A(LQT3).
Author: Dr Özge Özkaya
Click here for more articles about conditions related to epilepsy.
Researchers at Aix-Marseille University and Assistance Publique des Hôpitaux de Marseille (APHM) have developed an exciting new model of ‘personalised’ brain networks, based on information obtained in a non-invasive way. The work is published in the journal NeuroImage.
The team hopes to be able to use this model, known as the Virtual Epileptic Patient (VEP), to predict how seizures occur in individuals and develop new, personalised therapies.
The researchers, led by Professor Fabrice Bartolomei, took recordings from the brain of a 41-year-old woman with bitemporal epilepsy (on both sides) and, using computer imaging and mathematical modelling, made a virtual reconstruction of her brain. They are using this as a “template” and are adding information about the organisation of the brain in different individuals onto it.
The virtual brain can be used to test mathematical models of brain activity, and it will hopefully allow scientists to reproduce the seizure focus in individuals (the area in the brain where seizures arise), in order to gain important information about how seizures start and spread. Moreover, it will potentially help surgeons decide where in the brain to operate, and allow them to trial different surgical procedures in a virtual way to find out which will offer the best outcome.
According to a press release, the team is now developing trials to demonstrate the value of the virtual brain in clinical applications. The long-term aim is to use the VEP to predict the effects of different antiepileptic drugs on an individual’s brain and be able to administer a treatment that will give the best outcome for that person (personalised medicine).
Approximately 1% of the world’s population has epilepsy, but the condition affects each person in a different way. The ability to map epileptic activity in individual brains will help scientists develop new, more effective treatment strategies.
Author: Dr Özge Özkaya
Click here for more articles about brain science including genetics.
People with epilepsy may have difficulties with certain aspects of social cognition, and especially with identifying negative emotional states such as sarcasm and insincerity, according a study published in the scientific journal Epilepsia.
The research also showed that the age of epilepsy onset can significantly impact on social cognition, with more marked effects arising when onset is during periods of significant social development in childhood and adolescence.
These findings are important because they imply that, even though a person’s performance in standard generalised cognitive assessments gives a good indication of their basic social cognitive ability, it does not reveal as much about their level of advanced social cognition. This suggests that current generalised measures may not be as useful as once thought for standard neuropsychological assessment.
For the study, a team led by Dr Robert Roth, Associate Professor of Psychiatry at Geisel School of Medicine in Dartmouth, assessed social cognition in 43 people with focal epilepsy and 22 healthy controls. They used a dynamic video-based instrument called “The Awareness of Social Inference Test”, which accurately models real-world social situations.
During the test, the researchers asked participants to watch short videos of people interacting and answer questions about what they believe was occurring.
The results showed that people with epilepsy had no difficulty identifying positive emotions, for example happiness, but that they found it more difficult than controls to pinpointing negative emotions such as anger, fear and disgust. Moreover, people with epilepsy had no problem identifying sincere exchanges, but they were less adept than controls at telling when exchanges were insincere or sarcastic.
An awareness of these traits is important, and it may help prevent some people with epilepsy from being vulnerable in certain social situations.
Social cognition is a group of strategies that people use to process, store and apply information about other people and social situations in order to make sense of the social world. The main social cognitive skill is the ability to understand and react to the mental state of others. Other social cognitive skills include attachment formation, social communication, self-understanding and perception of others.
Author: Dr Özge Özkaya
Click here to read more stories about living with epilepsy.
The ability of anterior thalamic signals to predict seizures in temporal lobe epilepsy in kainate-treated rats
To analyze the local field potential (LFP) of the anterior nucleus of the thalamus (ANT) of epileptic rats using the Generic Osorio-Frei algorithm (GOFA), and to determine the ability of the ANT LFP to predict clinical seizures in temporal lobe epilepsy.Methods
GOFA is an advanced real-time technique used to detect and predict seizures. In this article, GOFA was utilized to process the electrical signals of ANT and the motor cortex recorded in 12 rat models of temporal lobe epilepsy (TLE) induced via the injection of kainic acid into the unilateral hippocampus. The electroencephalography (EEG) data included (1) 161 clinical seizures (each contained a 10-min segment) involving the ANT and cortical regions and (2) one hundred three 10-min segments of randomly selected interictal (no seizure) data.Results
Minimal false-positives (0.51 ± 0.36/h) and no false-negatives were detected based on the ANT LFP data processed using GOFA. In ANT LFP, the delay from electrographic onset (EO) to automated onset (AO) was 1.24 ± 0.47 s, and the delay from AO to clinical onset (CO) was 7.73 ± 3.23 s. The AO time occurred significantly earlier in the ANT than in the cortex (p = 0.001). In 75.2% of the clinical onsets predicted by ANT LFP, it was 1.37 ± 0.82 s ahead of the prediction of cortical potentials (CPs), and the remainder were 0.84 ± 0.31 s slower than the prediction of CPs.Significance
ANT LFP appears to be an optimal option for the prediction of seizures in temporal lobe epilepsy. It was possible to upgrade the responsive neurostimulation system to emit electrical stimulation in response to the prediction of epileptic seizures based on the changes in the ANT LFP.
Targeted Research Initiative for Research Related to Cannabinoid and Epilepsy (Applications due 9/12/16)
Some antiseizure drugs (ASDs) are associated with cognitive liability in patients with epilepsy, thus ASDs without this risk would be preferred. Little comparative pharmacology exists with ASDs in preclinical models of cognition. Few pharmacologic studies exist on the acute effects in rodents with chronic seizures. Predicting risk for cognitive impact with preclinical models may supply valuable ASD differentiation data.Methods
ASDs (phenytoin [PHT]; carbamazepine [CBZ]; valproic acid [VPA]; lamotrigine [LTG]; phenobarbital [PB]; tiagabine [TGB]; retigabine [RTG]; topiramate [TPM]; and levetiracetam [LEV]) were administered equivalent to maximal electroshock median effective dose ([ED50]; mice, rats), or median dose necessary to elicit minimal motor impairment (median toxic dose [TD50]; rats). Cognition models with naive adult rodents were novel object/place recognition (NOPR) task with CF-1 mice, and Morris water maze (MWM) with Sprague-Dawley rats. Selected ASDs were also administered to rats prior to testing in an open field. The effect of chronic seizures and ASD administration on cognitive performance in NOPR was also determined with corneal-kindled mice. Mice that did not achieve kindling criterion (partially kindled) were included to examine the effect of electrical stimulation on cognitive performance. Sham-kindled and age-matched mice were also tested.Results
No ASD (ED50) affected latency to locate the MWM platform; TD50 of PB, RTG, TPM, and VPA reduced this latency. In naive mice, CBZ and VPA (ED50) reduced time with the novel object. Of interest, no ASD (ED50) affected performance of fully kindled mice in NOPR, whereas CBZ and LEV improved cognitive performance of partially kindled mice.Significance
Standardized approaches to the preclinical evaluation of an ASD's potential cognitive impact are needed to inform drug development. This study demonstrated acute, dose- and model-dependent effects of therapeutically relevant doses of ASDs on cognitive performance of naive mice and rats, and corneal-kindled mice. This study highlights the challenge of predicting clinical adverse effects with preclinical models.
The Queen’s Nursing Institute (QNI), in London, has published guidance for community nurses to help them support homeless people who have epilepsy.
The guidance, entitled Working with Epilepsy and Homelessness: Guidance for Community Nurses, was produced by ten epilepsy specialist nurses in collaboration with ten specialist homeless health professionals.
In a press release, David Parker-Radford, Homeless Health Project Manager at the QNI said: “Epilepsy diagnosis and ongoing treatment can be complex and require multiple health appointments and tests. This means it is even more vital that epilepsy services find proactive ways to reach vulnerable high-risk people, including those who may not be registered with a GP.”
He added: “All people living with epilepsy have the right to excellent care and treatment – not only those with stable support and housing.”
The 12-page long guidance comprises background information about the causes of epilepsy, the different types of seizures, and available treatments.
It also details the needs of homeless people, their particular risk factors and the practicalities of living with epilepsy if homeless.
Finally, it gives advice for nurses about first aid, supporting homeless people with epilepsy and coordinating their care.
The benefits of the guidance are two-fold. First, it offers knowledge to community nurses about epilepsy therefore allowing them to be more confident when supporting these people. Second, it allows epilepsy professionals to have a greater understanding of the risks and realities associated with homelessness.
The guidance was produced in response to evidence suggesting that homeless people are significantly more likely to have or develop epilepsy than the general population.
Author: Dr Özge Özkaya
Click here to read more stories about living with epilepsy.
The primary objective for this study was to assess social cognition in patients with focal epilepsy using a naturalistic task, which accurately models complex real-world social interaction.Methods
We conducted an observational study of social cognition in 43 patients with focal epilepsy and in 22 controls. Patients and controls completed The Awareness of Social Inference Test, which measures both basic and advanced social cognition in a realistic video-based format. Patient and controls also completed standard measures of cognitive functioning and measures of depression.Results
Compared to controls, we found that patients with epilepsy (PWEs) had no difficulty identifying positively valenced emotional states (happiness) yet had difficulty identifying most negatively valenced emotional states (anger, fear, and disgust). In addition, PWEs were able to identify sincere exchanges correctly but could not identify sarcastic and insincere exchanges. We found that basic social cognition significantly correlated with standard generalized cognitive measures, whereas advanced social cognition did not. Finally, age at onset had significant impact on social cognition, whereas other epilepsy characteristics did not.Significance
PWEs have deficits in social cognition when measured using a naturalistic video-based task. Advanced social cognition may be an independent cognitive domain in PWEs that is not adequately measured using standard psychometric instruments. Problems with social cognition may arise as a consequence of epilepsy during the periods of robust social development in childhood and adolescence.