CURE Epilepsy is dedicated to funding patient-focused research to find a cure for the 65 million people with epilepsy worldwide. This month, we share the following articles and abstracts which are furthering the study of epilepsy and bringing the world closer to a cure.

Smartphone Videos Speed Time to Diagnosis, Treatment of Infantile Spasms


The use of smartphone video to capture infantile spasms significantly reduces the time to diagnosis and treatment, according to a new study. Researchers assessed the difference in the amount of time to electroencephalogram (EEG), diagnosis and treatment of 80 infants with confirmed infantile epileptic spasms syndrome with or without accompanying video capture of their spasms. The infants whose spasms were captured on smartphone video were seen at a clinic a median of nine days earlier, had their first EEG 16 days earlier, and were diagnosed and started treatment 17 days earlier compared with the group that had no video capture. They also had a 25% greater response to initial standard treatment. “Infantile spasms are a pretty detrimental type of seizure that infants can have around 5 months of age,” explained study co-author Douglas R. Nordli III, MD, a pediatric epileptologist at the University of Chicago. “When most people hear the word ‘seizure,’ they think of a grand mal seizure involving uncontrolled movements, but this is very different. Infantile spasms involve just a slight twitch with the head going down and the arms going up, and an uncomfortable cry afterward. The description, especially for a distressed parent, is hard to relay, and seeing the video really is worth a thousand words.”

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Sleep and Stress Hormones Key to Understanding Epilepsy Seizures


Sleeping patterns and stress hormones could be the key to understanding how and when people with epilepsy are likely to experience seizures, a new study reveals. Classically, seizures were assumed to occur at random until the discovery of rhythms of epileptiform discharge (ED) activity in individuals with epilepsy that vary from hours to months. Researchers used mathematical modeling to understand the impact of different physiological processes, such as sleep and changes in concentration of the stress hormone cortisol, on ED  signatures from 107 people with idiopathic generalized epilepsy. The researchers discovered two subgroups with distinct distributions of ED: one group had the highest incidence during sleep and the other during daytime. ED frequency increased during the night, early in the morning, and in stressful situations in many people with epilepsy. The researchers' mathematical model described the activity of connected brain regions, and how the excitability of these regions can change in response to different conditions such as between sleep stages or variation in the concentration of cortisol. Their findings reveal that either the dynamics of cortisol or sleep stage transition, or a combination of both, explained most of the observed distributions of ED and may provide a framework for better understanding the timing of seizure activity.

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Alternate Origin Discovered for Brain Mosaicism and Focal Epilepsy


Most people have the same genetic information in every cell of their body. However, during fetal development, two or more genetically diverse sets of cells can develop. These genetically diverse or ‘mosaic’ cells may cause disorders or diseases including epilepsy. Scientists have recently discovered an alternate origin of brain mosaicism in some children with focal epilepsy. The scientists performed a genetic analysis of brain tissue, blood and buccal cells (cells derived from the inside of the cheek). Tissue samples were taken from six patients, aged two months to seven months, who underwent epilepsy surgery. Analyses of the tissues showed that some of the cells in the brain tissue had extra copies of chromosome 1q compared to the normal tissue. The blood and buccal cells did not have any cells with extra copies of chromosome 1q. “This work is incredibly exciting for two reasons,” noted a study author. “First, it links a recently identified cause of epilepsy to a pathological finding, furthering our understanding of how chromosome 1q causes unrelenting seizures. Second, it opens the door to new mechanisms of how brain tissue may be impacted by genetic problems differently than the rest of the body. Now, we have to reconsider how we look at genetic causes of epilepsy.”

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NIH Grant Expands UIC Brain Bank into Citywide Effort to Study Epilepsy, Brain Cancer


A new virtual brain bank spanning five Chicago academic medical centers and led by University of Illinois Chicago (UIC) will create a powerful new resource for clinical care and research on epilepsy, brain tumors and neurological disorders. The institutions will utilize a data platform developed at UIC called INTUITION that combines tissue data with clinical, functional, genetic and 3D imaging information to assist clinicians in treating patients and help researchers better understand the mechanisms of brain disorders. To integrate all this data into a single system, researchers created INTUITION, a software platform that automatically gathers disparate data types and combines them into user-friendly interfaces for clinicians and researchers. Neurologists can use the platform to make decisions about surgical treatment for patients, and UIC scientists use its database to gain insights into how seizures start and how to prevent them. Today, the tissue and data repository contain tissue samples and information from over 200 patients, which enables researchers to look for common factors across individuals that cause epilepsy and could be targets for new treatment approaches. Bringing INTUITION to other medical centers will dramatically increase that number, enabling larger-scale studies in a more diverse patient population including both adult and pediatric cases.

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Newer Antiseizure Medications (ASMs) Show Effectiveness in Dravet Syndrome


Newer antiseizure medications (ASMs) for children and adolescents with Dravet syndrome reduced seizure frequency by at least 50% in clinical trials, according to a pooled analysis of study data. The recent study also compared the benefits and safety of such therapies, each of which is approved in the U.S. for patients ages two and older. Dravet syndrome is a severe epileptic brain disease in which symptoms typically emerge in the first year of life. It is characterized by hard-to-treat, lifelong seizures, intellectual disability, behavior disturbances, sleep disorders, and walking problems. With the approval of new ASMs in recent years, the management of Dravet-related seizures has changed. To better understand the overall impact of these changes, a team led by researchers in Italy pooled available evidence to evaluate the efficacy and tolerability of these newer ASMs. A database search revealed eight placebo-controlled trials that included 680 pediatric participants. Of these, 409 were randomly assigned an active add-on treatment, while 271 received a placebo. Add-on treatments included Diacomit® (stiripentol), Epidiolex® (cannabidiol), Fintepla® (fenfluramine), and the experimental therapy soticlestat. Diacomit® was associated with a 100% reduction in seizure frequency compared with the placebo, while Epidiolex® was linked to a lower rate of adverse events than Diacomit® and Fintepla®. The data gathered in this study will allow healthcare providers “to have reliable data and enable discussion with caregivers of people with [Dravet syndrome] about the expected outcomes” of these medications, the team wrote.

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How Yoga May Help Reduce Epilepsy Seizures, Anxiety


A new study in Neurology reports that doing yoga may help reduce seizure frequency, anxiety, and feelings of stigma that frequently comes with having epilepsy. “People with epilepsy often face stigma that can cause them to feel different than others due to their own health condition and that can have a significant impact on their quality of life,” said Dr. Manjari Tripathi, a study author and neurologist with the All India Institute of Medical Sciences in New Delhi. “This stigma can affect a person’s life in many ways including treatment, emergency department visits, and poor mental health. Our study showed that doing yoga can alleviate the burden of epilepsy and improve the overall quality of life by reducing this perceived stigma.” Researchers looked at people with epilepsy with an average age of 30 in India. They measured stigma based on participants’ answers to questions about being discriminated against, feeling different from other people, and whether they feel they contribute to society. The scientists then identified 160 people meeting the criteria for experiencing stigma. Participants averaged one seizure per week and, on average, took at least two antiseizure medications. The team then randomly selected subjects to receive yoga therapy or sham yoga therapy. Researchers reported that people doing yoga were more likely to have reduced perception of stigma. The team also discovered people who did yoga were more than four times as likely to have more than a 50% reduction in their seizure frequency after six months than the people who did sham yoga. There was also a significant decrease in anxiety symptoms for those who did yoga compared to people who did not. Researchers said they saw improvements in quality of life measures and mindfulness.

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