NIH and CDC Announce Grantees for the Sudden Death in the Young Registry
The NIH and CDC announce awards to ten grantees for the Sudden Death in the Young Registry. Six are current or former grantees from the Sudden Unexpected Infant Death (SUID) Registry: Georgia, Michigan, Minnesota, New Hampshire, New Jersey, and Wisconsin. Four are new grantees: Delaware, Tennessee, the city of San Francisco and the Tidewater region of Virginia.
Grants were awarded on September 30, 2014. After a period of training and preparation, the grantees will begin reviewing cases in January 2015. After obtaining consent, information gathered through Child Death Review and advanced clinical review will be entered into a database managed by the Michigan Public Health Institute and DNA samples will be stored at a biorepository.
SIgn Up Now for the November 6 PAME Webinar on Rare Epilepsies
Have you or a loved one been diagnosed with a rare epilepsy including: Aicardi Syndrome, CDKL5 Disorder, Dravet Syndrome, Dup15q Syndrome, Hypothalamic Hamartoma, Lennox-Gastaut Syndrome, Ohtahara Syndrome, PCDH19 Female Epilepsy, Phelan-McDermid Syndrome or Tuberous Sclerosis Complex?
If so, you are not alone. Though each syndrome is different, patients and caregivers with rare epilepsies share many common seizures types, symptoms, and side effects.
During this webinar you will learn more about the rare epilepsies and the serious risks associated with these syndromes, including Sudden Unexpected Death in Epilepsy (SUDEP). You will be informed about the Rare Epilepsy Network (REN) and how it will help to identify better prevention and treatment options.
CURE Grantee Receives $1.5 Million NIH Grant to Continue Epilepsy Research
OMAHA, Nebraska -- The National Institute of Neurological Disorders and Stroke has awarded Timothy Simeone, Ph.D., a five-year $1.5 million National Institutes of Health (NIH) grant to identify new mechanisms in epilepsy to provide potential targets for future therapeutics.
Simeone is an assistant professor of Pharmacology in Creighton University’s School of Medicine. The study is related to his previous research, which has identified one particular protein important for the management of seizures in children and adolescents with a special high-fat diet. Simeone’s research will explore the role of this protein, and associated regulator pathways, in normal and epileptic brain function. He aims to determine previously unknown mechanisms of epilepsy and identify additional targets for therapeutic development.
The research is especially important because one in 26 people will develop epilepsy in their lifetime of which approximately 30 percent will not achieve adequate seizure control with current anti-seizure drugs. That same population is at greatest risk of sudden unexpected death in epilepsy (SUDEP).
CURE Grantee Published in the Journal of Neuroscience
Dr. Naegele transplanted new inhibitory cells into the brains of mice 2 weeks after an epilepsy-producing stimulus. As others have also reported, her group saw that the mice with the transplants had fewer and milder seizures compared to controls. This work went one step further than previous studies to look at the mechanism by which cell transplantation decreases seizures and found new inhibitory connections in a part of the brain known to contribute to seizures in temporal lobe epilepsy.
By Liane Kupferberg Carter
Reprinted with permission by The Chicago Tribune
Maybe it's just this time of year making me pensive. Summer is ending. Kids are leaving for college. Social media are crammed with articles and advice on how to weather the seismic family shift: "Get Your Heart and Mind Ready." "Loosen the Times That Bind." "How to Navigate What Comes Next."
My autistic son, Mickey, has finished high school. In our state, a developmentally disabled child "exits" the school system at 21. They call it "exiting" — not "graduating." He has "transitioned" — to a Byzantine, chronically underfunded system of government services for disabled adults. Mickey hasn't graduated, exactly. Neither have I.
This point was recently driven home when a woman in our neighborhood emailed us an invitation to a barbecue for a club she was starting for "empty nesters." I get it. When our older son, Jonathan, left for college, it felt like a rift in the family fabric. Mickey, then 14, summed it up when he asked, "My brother doesn't live here anymore? Are we divorced?"
New indication for VIMPAT (lacosamide): UCB's anti-epileptic drug approved by FDA as monotherapy in the treatment of patients with partial-onset seizures
Brussels (Belgium), 1st September, 2014 – 0700 (CEST) – regulated information – UCB announced today that the U.S. Food and Drug Administration (FDA) has approved a supplemental new drug application (sNDA) for VIMPAT® (lacosamide) C-V as monotherapy in the treatment of partial-onset seizures in patients with epilepsy aged 17 years and older. This is a new indication for VIMPAT® which is already approved in the U.S. as adjunctive treatment for partial-onset seizures in patients in this age group. This new indication means that adults with partial-onset seizures can be initiated on VIMPAT® monotherapy, and patients already on an anti-epileptic drug can be converted to VIMPAT® monotherapy.
UCB also announced today that the FDA has approved a new single loading dose administration option for all formulations of VIMPAT®, when used as monotherapy or adjunctive therapy in the treatment of partial-onset seizures in patients with epilepsy aged 17 years and older.
Insys Therapeutics Receives FDA Orphan Drug Designation for Its Pharmaceutical Cannabidiol as a Potential Treatment for Dravet Syndrome, a Rare Form of Epilepsy
PHOENIX, AZ--(Marketwired - Jul 2, 2014) - Insys Therapeutics, Inc. (NASDAQ: INSY), a specialty pharmaceutical company that is developing and commercializing innovative drugs and novel drug delivery systems, today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug designation to its pharmaceutical cannabidiol (CBD) for the treatment of Dravet syndrome, a rare pediatric-onset epilepsy.
"There is presently no cure for this catastrophic form of epilepsy, and the significant, unmet need is recognized by the orphan drug designation we received today for our pharmaceutical CBD," said Michael L. Babich, President and Chief Executive Officer. "Our pharmaceutical CBD is an alternative to plant derived cannabinoids, one which we believe will provide significant medical benefits and better address the unmet needs of patients across multiple indications including Dravet syndrome. We expect to file an Investigational New Drug Application (IND) for CBD in the second half of 2014."
Insys has more than seven years of research and development experience in the pharmaceutical cannabinoid space. The company manufactures pharmaceutical dronabinol (THC) and pharmaceutical CBD, both of which are cannabinoids, at its FDA-inspected and Drug Enforcement Administration (DEA) approved facility in Round Rock, Texas. Insys believes it is the only U.S.-based company with the capacity to produce pharmaceutical cannabinoids in scalable quantities.
Statement Regarding Department Of Defense Epilepsy Funding Announcement
“CURE applauds the announcement today from the U.S. Department of Defense – allocating $7.5 million dedicated to epilepsy research – and thanks Senator Dick Durbin (D-IL) for his leadership on this issue. The incidence of epilepsy increased by an alarming 52 percent from 2006 to 2010, with approximately 8 percent of those afflicted having been diagnosed with traumatic brain injury (TBI). Twenty-four percent of military related epilepsy is associated with prior TBI.
An expert panel of leading researchers and clinicians will discuss the latest research on the diagnostic and therapeutic management of PCDH19 Female Epilepsy. This course is appropriate for, and designed to foster dialogue among Pediatric Neurologists, Pediatric Epileptologists and Pediatric Neurology RNs and NPs. In addition to providers who provide direct care for patients in routine clinical visits and in emergent situations, researchers, genetic counselors and families affected by PCDH19 will also benefit from this course.
Some kinds of epilepsy are rooted in physical trauma — a brain injury at birth, perhaps. Others seem to show up like bolts from the blue, with no clear event to explain them. Yet one thing is clear: many cases of idiopathic epilepsy — epilepsy without an obvious physical cause — run in families, implicating heredity in their genesis. Indeed, studies1 suggest that genetic variations in ion channels on the surface of neurons — electrically excitable cells in the nervous system — might lie at the heart of many cases of idiopathic epilepsy, and presumably cause the firing of these cells to get out of control.
But there is still much that scientists do not know about the genetics of idiopathic epilepsy. Currently, a gene variant can only be associated with 10–40% of patients, according to Holger Lerche, who researches the genetics of neurological disorders at the Centre for Integrative Neuroscience in Tübingen, Germany. “But actually, almost all idiopathic epilepsy is likely to be genetic, so this figure should be closer to 80–100%,” he says. “The problem is that we haven't identified all disease-associated genes just yet — nor how they interact.”
Adding to the complexity of the puzzle are the facts that two-thirds of healthy individuals carry a gene variant associated with epilepsy, that many genes pinpointed by genetic analyses are also implicated in other disorders, and that epilepsy often co-occurs with other diseases — 30% of children with autism also have epilepsy, for example. This makes it hard to connect a given genetic variant in a patient to one specific disease. Epilepsy is a complex genetic disorder involving interplay between many genes, often in unexpected ways.
Former Board Member Randy Siegel continues to spread the word about CURE, advancing scientific research at Wesleyan University
Thanks to an endowment gift from Randy Siegel '83, this summer Elizabeth Paquette '15 will be working on cutting-edge epilepsy research in the lab of Professor Janice Naegele.
Siegel, a College of Letters alumnus, and his wife Lisa have a very personal reason for making their gift: their daughter Rebecca, 17, has struggled with intractable epilepsy since she was a baby. (Son Richie is a sophomore at New York University). Several years ago Randy and Lisa were introduced to a young advocacy group called CURE Epilepsy by another couple with a severely epileptic daughter—Susan and David Axelrod. David is the former political strategist and senior advisor to President Obama, while Susan founded CURE. The Siegels became active members of the organization, and Randy recently completed a long stint as a board member.
CURE Grantee Christophe Bernard, PhD Leads Breakthrough on Understanding of Seizure Mechanisms Across Species
On a quest to answer, “What is epilepsy?” Dr. Christophe Bernard examined seizure activity across species, from flies to humans. The findings were recently published in a new paper that Dr. Bernard says is the ‘work he's most proud of in his career.’ Read more in his piece in HuffPost Lifestyle – UK.
Learning about Investigator-Stakeholder Team Engagement in Neurological Clinical Trials
On Tuesday, July 22nd, NINDS grantees at the University of Michigan will host a free one-day patient advocacy conference exploring patient-informed clinical trial design. The LISTEN conference [Investigator-Stakeholder Team Engagement in Neurological Clinical Trials] is sponsored by the NINDS-supported Neurological Emergencies Treatment Trials Network (NETT). In the event that you are not familiar with the NETT, this multi-center project conducts large-scale clinical trials to determine rapid interventions for a range of neurological disorders including, but not limited to, stroke, traumatic brain injury, seizure and infectious disorders.
CURE Research Director H. Steve White, Ph.D., Awarded for Contributions to the Field of Epilepsy and Seizures
CURE Research Director H. Steve White, Ph.D., who also serves as a professor of pharmacology and toxicology and principal investigator of the National Institutes of Health (NIH)-sponsored Anticonvulsant Drug Development Program at the University of Utah College of Pharmacy, has been named the 2014 recipient of the Epilepsy Foundation’s Lifetime Accelerator Award, in recognition of his commitment and pioneering contributions to the field of epilepsy and seizures. Dr. White will be honored at the 4th Biennial Epilepsy Pipeline Conference 2014, being held June 5-7, 2014, at the Hyatt Regency San Francisco.
Seventy Medical Research Fellows to Embark on a Year in the Lab
Seventy of the nation’s top medical and veterinary students have been selected to participate in the 26th class of the HHMI Medical Research Fellows Program, a $2.8 million annual initiative to increase the training of future physician-scientists. The students will put their medical studies on hold for one year to conduct intensive, mentored biomedical research at 32 fellowship institutions across the country.
This year, HHMI received 191 fellowship applications from students representing 68 institutions. Each applicant was required to submit a research plan to work in a specific lab with a mentor they had identified.
“Autoimmune Causes of Epilepsy”
Wednesday, May 7, 2014
The Epilepsy Center of Excellence and the Employee Education System are proud to announce a series of audio conferences providing continuing education to VA providers to improve the health, well-being, and clinical care of Veteran patients with epilepsy and other seizure disorders.
1:00 PM – 2:00 PM Eastern Time
10:00 AM – 11:00 AM Pacific Time
Courtagen to Provide Genetic Profiling of Children with Intractable Epilepsy to Support Clinical Developments with Cannabidiol
Using the latest next-generation sequencing technologies, Courtagen is collaborating with various academic centers and US physicians to profile the genomes of intractable epilepsy patients to stratify response to cannabidiol (CBD).
Courtagen Life Sciences, an innovative molecular information company, announces a new comprehensive epilepsy sequencing test designed to sequence 489 genes known to be involved in epilepsy, antiepileptic drug metabolism, and endocannabinoid regulation. This panel is to be the first deployed in the genetic analysis of over 100 children suffering from intractable epilepsy syndromes.
The FDA has granted orphan drug designation for GW Pharmaceuticals’ Epidiolex®, the product candidate that contains plant-derived cannabidiol (CBD) as its active ingredient for use in treating children with Dravet syndrome, as well as Lennox-Gastaut syndrome, two rare and severe forms of infantile-onset, genetic, drug-resistant epilepsy syndromes. Epidiolex is an oral liquid formulation of a highly purified extract of CBD, a non-psychoactive molecule from the cannabis plant. The FDA has approved expanded access to the Investigational New Drug (IND) to several independent physicians in the U.S. in order to allow treatment of approximately 125 pediatric epilepsy patients with Epidiolex.
Epilepsy Research Grants Awarded By Cure After Receiving Record-High Number Of Applications
February 13, 2014, Chicago, IL – After receiving a record-high 200 plus applications in 2013, Citizens United for Research in Epilepsy (CURE) is proud to announce its six research grant recipients for the Taking Flight and Innovator awards.
The surge in applications is credited to CURE’s ongoing efforts to drive the epilepsy research agenda, funding innovative science not currently being explored by other institutions.
“This was the first year we were unable to fund all of the grants we would have liked to,” said Dr. Steve White, research director for CURE. “The applications received in 2013 were extremely competitive and filled with state-of-the-art science that promises to advance our understanding of the forms of epilepsy.”
Each year, the most promising grants are selected and funded on the basis of the scientific investigations proposed and the potential that the investigations will lead to a greater understanding of the forms of epilepsy and new therapies that could ultimately lead to a cure.
Savannah Salazar went to bed one night in 1995 as a typical toddler. At two and a half years old, she could count to three and knew most of her colors, although she still mixed up black and brown. As far as her parents could see, she was developing pretty much the same way her four-year-old brother had.
And then, in the middle of that night, everything changed. Her parents, Ruben Salazar and Tracy Dixon-Salazar (who is now Dr. Dixon-Salazar), awoke to a sound every parent dreads: their daughter was choking. “She was gagging, hacking, and making frothing noises,” Dr. Dixon-Salazar recalls. “I thought my child was dying. By the time the paramedics came, Savannah was okay. But I'll never forget what one of them said next: ‘Her airway is clear, but what you've just described sounds like a seizure.’”
Savannah didn't go to the hospital that night. Her exhausted parents tried to go back to bed. But when Savannah had another seizure a couple of weeks later—and a total of four within a period of two months—the family embarked on a seemingly endless roller coaster of scans, tests, and doctor visits: blood tests, magnetic resonance imaging (MRI), computed tomography (CT) scans, electroencephalography (EEG)—but they all came back normal.
Marijuana-Derived Epilepsy Drug in Clinical Trial for Children with Uncontrolled Seizures
A new international multi-center study led by researchers from UCSF Benioff Children’s Hospital is the first to evaluate whether purified cannabinoid is effective in treating severe forms of childhood epilepsy that do not respond to standard antiepileptic drugs.
“Better treatment for children with uncontrolled seizures is desperately needed,” said Maria Roberta Cilio, MD, PhD, principal investigator for the multi-center study and director of research at the UCSF Pediatric Epilepsy Center. “It’s important to get seizure control at any age, but in children, uncontrolled seizures may impact brain and neurocognitive development, which can have an extraordinary effect on quality of life and contribute to progressive cognitive impairment.”
The drug, called Epidiolex, is a purified cannabinoid that comes in a liquid form containing no tetrahydrocannabinol (THC), the psychotropic component in cannabis. Produced by the biopharmaceutical company GW Pharmaceuticals, Epidiolex is considered a schedule 1 substance by the U.S. Food and Drug Administration (FDA) and is closely monitored and restricted by both the FDA and U.S. Drug Enforcement Agency.
The trial will enroll a total of 150 patients across six centers. The study began earlier this month at UCSF Benioff Children’s Hospital and is also underway at NYU Langone Medical Center. Pending FDA approval, it will launch at four additional institutions this year.
Science Translational Medicine Publishes Paper by CURE Grantee Jeff Noebels, MD, PhD
Infantile spasms syndrome (ISS) is a devastating form of childhood epilepsy characterized by involuntary,massive motor spasms during early infancy that herald a lifelong disorder of severe seizures and intellectual disability. Mutations in a growing list of genes critical for the establishment of proper neural networks during development have been associated with its many inherited forms. ISS responds poorly to typical anticonvulsant drugs, and despite the lack of a known mechanism, the synthetic glucocorticoid prednisone and adrenocorticotropic hormone (ACTH) remain the primary initial treatments. Although short-term spasm reduction can be achieved, high relapse rates, cognitive impairment, and long-lasting side effects highlight the need for more effective therapy.
NIH Announces Six Funding Opportunities for the BRAIN Initiative in Fiscal 2014
The National Institutes of Health is releasing funding opportunities to build a new arsenal of tools and technologies for unlocking the mysteries of the brain. The NIH action is in support of President Obama’s Brain Research through Advancing Innovative Neurotechnologies (BRAIN) Initiative.
The six opportunities announced today were developed in response to high priority areas identified by the NIH Advisory Committee to the Director’s BRAIN Working Group in September 2013. Awards are expected to be announced in September 2014 and will constitute NIH’s initial investment of $40 million in the initiative.
“The human brain is one of the most complicated structures in the known universe,” said NIH Director Francis S. Collins, M.D., Ph.D. “We have an unprecedented opportunity to develop new technologies that will allow us to map the circuits of the brain, measure activity within those circuits, and understand how their interactions maintain health and modulate human behavior.”
The President’s BRAIN Initiative is a large-scale inter-agency federal effort that the President described as “giving scientists the tools they need to get a dynamic picture of the brain in action and better understand how we think, how we learn, and how we remember.” Three federal agencies — NIH, National Science Foundation, and Defense Advanced Research Projects Agency, or DARPA — expect to contribute a total of $110 million in the 2014 fiscal year. NIH’s $40 million contribution in fiscal 2014 is in addition to the roughly $5.5 billion slated in the NIH fiscal 2014 budget for neuroscience research. Private organizations have also signed on to bolster this bold, interdisciplinary effort.
WEBINAR: Understanding SUDEP Research and the Role You Can Play
Ending sudden unexplained death in epilepsy (SUDEP) is a shared responsibility. And you can help! Any successful effort will require doctors, people with epilepsy, nurses, researchers, coroners and those bereaved by the loss of someone to SUDEP to work together. It will require collaboration across many different organizations over many years. During this webinar we will begin with a look at what research is telling us about the possible causes as well as future prevention methods and cures for SUDEP.
Acorda Presents New Data on Diazepam Nasal Spray at 67th Annual Meeting of American Epilepsy Society
ARDSLEY, N.Y.—Dec 9, 2013-- Acorda Therapeutics, Inc. (Nasdaq: ACOR) today announced that new data from a pharmacokinetics study on Diazepam Nasal Spray found comparable pharmacokinetics (PK) whether the drug was administered during or immediately after a seizure. These data were presented at the 67th Annual Meeting of the American Epilepsy Society, in Washington, D.C. Diazepam Nasal Spray is being developed for the treatment of people with epilepsy who experience cluster seizures, also known as acute repetitive seizures.
“In this study, some patients received a dose of Diazepam Nasal Spray while having a seizure, while others received the dose after their seizure activity had ceased,” said Adrian Rabinowicz, M.D., FAAN, Acorda's Senior Vice President of Clinical Development and Medical Affairs. “The results suggest that delivery of Diazepam Nasal Spray was unaffected by the timing of dosage relative to seizure activity. It is critical for a person with epilepsy who experiences cluster seizures that treatment be administered as soon as possible after a cluster is recognized, in order to prevent additional seizure activity.”
This multicenter, open-label study was conducted in adults admitted to an epilepsy monitoring unit for evaluation and management of epilepsy. Of the 30 patients who completed the study, 10 were dosed during a seizure, while the other 20 patients were dosed after their seizure activity had ceased. Plasma concentrations of diazepam were measured for a period of up to 12 hours following the dose.
Univ. of Colorado Professor Amy R. Brooks-Kayal, M.D. Named First Vice President of American Epilepsy Society
Washington, D.C., December 9, 2013 – Amy R. Brooks-Kayal, M.D., Professor with Tenure of Pediatrics, Neurology and Pharmaceutical Sciences at the University of Colorado School of Medicine and Skaggs School of Pharmacy and Pharmaceutical Sciences, and Ponzio Family Chair and Chief of Pediatric Neurology at Children’s Hospital Colorado, over the weekend was elected first vice-president of the American Epilepsy Society (AES), during the Society’s 67th annual meeting and scientific conference at the Washington (DC) Convention Center.
AES is the 3,000-member society of physicians, scientists and allied healthcare professionals dedicated to the prevention, treatment, and cure of epilepsy. Dr. Brooks-Kayal’s new AES board position puts her in line to head the organization at the end of the current president’s term in office.
Dr. Brooks-Kayal is a practicing epileptologist at Children’s Hospital Colorado. She also leads an NIH-funded research program focused on the molecular mechanisms underlying epilepsy and the development of new targeted- therapies for epilepsy prevention and disease modification.
Seizure Triggers: How to Deal with Them and Prevent Seizures
ECoE Patient and Caregiver FY14 Education Audio Conference
Sponsored by Epilepsy Centers of Excellence & Employee Education System
Thursday, December 5, 2013
1:00 PM EASTERN TIME
10:00 AM PACIFIC TIME
Maria Lopez, MD Epilepsy Center of Excellence, Miami VA Medical Center
The Epilepsy Center of Excellence and the Employee Education System are proud to announce a series of audio conferences providing education and training to patients and caregivers to improve the health and well-being of Veteran patients with epilepsy and other seizure disorders.
Marijuana has been used medically, recreationally and spiritually for about 5,000 years. Known botanically as cannabis, it has been called a “crude drug”: marijuana contains more than 400 chemicals from 18 chemical families. More than 2,000 compounds are released when it is smoked, and as with tobacco, there are dangers in smoking it.
Medical marijuana clinics operate in 20 states and the District of Columbia, and its recreational use is now legal in Colorado and Washington. A Gallup poll conducted last month found that 58 percent of Americans support the legalization of marijuana.
Yet researchers have been able to do relatively little to test its most promising ingredients for biological activity, safety and side effects. The main reason is marijuana’s classification by Congress in 1970 as an illegal Schedule I drug, defined as having a potential for abuse and addiction and no medical value.
American scientists seeking clarification of marijuana’s medical usefulness have long been stymied by this draconian classification, usually reserved for street drugs like heroin with a high potential for abuse.
Brain Connectivity Can Predict Epilepsy Surgery Outcomes
A discovery from Case Western Reserve and Cleveland Clinic researchers could provide epilepsy patients invaluable advance guidance about their chances to improve symptoms through surgery. Assistant Professor of Neurosciences Roberto Fernández Galán, PhD, and his collaborators have identified a new, far more accurate way to determine precisely what portions of the brain suffer from the disease. This information can give patients and physicians better information regarding whether temporal lobe surgery will provide the results they seek.
NIH and CDC Launch Registry for Sudden Death in the Young
A registry of deaths in young people from conditions such as heart disease and epilepsy is being created to help researchers define the scope of the problem and set future research priorities. The National Institutes of Health and the Centers for Disease Control and Prevention are collaborating to create the Sudden Death in the Young Registry.
"The sudden death of a child is tragic and the impact on families and society is incalculable," said Jonathan Kaltman, M.D., chief of the Heart Development and Structural Diseases Branch within the Division of Cardiovascular Sciences at the NIH's National Heart, Lung, and Blood Institute (NHLBI). "This registry will collect comprehensive, population-based information on sudden unexpected death in youths up to age 24 in the United States. It is a critical first step toward figuring out how to best prevent these tragedies."
Cases of sudden cardiac death or sudden unexpected death in epilepsy (SUDEP) are not routinely or systematically reported, and no commonly agreed upon standards or definitions for reporting currently exist. Complete information has not been collected on the incidences, causes, and risk factors for sudden death in the young. The lack of evidence fuels disagreements about the best prevention approach. Sudden cardiac death, also called sudden cardiac arrest, happens when the heart suddenly and unexpectedly stops beating and blood stops flowing to the brain and other vital organs.
CURE Awards $2 Million to Grantees for Research in Epilepsy
October 21, 2013, Chicago, IL - Citizens United for Research in Epilepsy (CURE), the leading nongovernmental funder of epilepsy research, is proud to announce the most recent recipients of research grants awarded this year. Over $2 million was awarded in this cycle.
“These investigators have demonstrated they understand the urgency in finding cures for the epilepsies, and we are confident in their abilities to accelerate breakthroughs,” stated Susan Axelrod, Founding Chair of CURE.
Researchers identify key proteins that are involved in the worsening of epilepsy and associated behavioral issues
CURE-funded research has shown that normal function of SNARE proteins (proteins important for releasing chemicals to signal neurons) found on star-shaped glia cells in the brain, called astrocytes, is crucial for seizures to progress in frequency and severity. Decreasing SNARE function limited seizures and epilepsy progression. This was also true for behavioral deficits and inflammation where blocking SNARE protein action was show to decrease both. Studies like these may help us to understand why certain types of epilepsy can worsen over time and cause a myriad of behavioral and cognitive effects that are detrimental to patients.
Two-hundred fifty patients were referred by their physician to have their whole exome sequenced (the exome is the part of the genome that codes for proteins), of which most were children with neurological disorders such as epilepsy. Researchers then took these patients’ exome data and analyzed it. They were able to identify the cause of the disorder in 25% of the patients. This is significant because it states that 25 out of 100 patients who don’t know the cause of their disorder could have the genetic cause identified using this method.
A congregation of zebrafish larva - each about the size of an eyelash and translucent with bulging black eyes - darted violently under the lens of a microscope.
The tiny fish are key players in UCSF neuroscientist Scott Baraban's quest to understand first how seizures in humans develop and then how to prevent them. Working with fish has accelerated his research, allowing him to uncover potential epilepsy treatments with incredible speed and at a fraction of the cost compared with mice.
Those advantages and others have caused labs around the world to increasingly turn to zebrafish for research, using them to study everything from epilepsy to environmental toxins.
"There has been something like a Cambrian explosion in zebrafish research in the past 10 years," said Zoltan Varga, director of the Zebrafish International Resource Center at the University of Oregon.
In 2002, the center recorded about 330 scientific labs working with the fish. By 2012, that number had grown to more than 800.
Annals of Neurology Publishes 2012 CURE Grantee’s Paper
Published in the September issue of Annals of Neurology was a paper by Vanderbilt University investigator and CURE Grantee Jingqiong (Katty) Kang. Dr. Kang’s work focuses on Dravet Syndrome, a severe form of infantile epilepsy. Genetic changes in the gene that codes for a major inhibitory receptor in the brain (GABRG2) can cause Dravet Syndrome, but it can also cause less severe forms of epilepsy. Dr. Kang’s work shows that different types of genetic changes in this gene can lead to the differences in epilepsy seen in patients. For example, patients who have a truncating mutation early in the sequence of this gene, have more severe seizures than patients who have a truncating mutation later in the gene sequence. This work explains how patients with defects in the same gene might have very different types of epilepsy and lays the foundation for future work aimed at stopping seizures in these patients.
FOA: Centers Without Walls for Collaborative Research in the Epilepsies: Sudden Unexpected Death in Epilepsy (SUDEP)
NIH/NINDS issued a request for applications to obtain funding to accelerate the rate of progress in understanding the underlying causes and contributing factors to SUDEP and work toward interventions that prevent SUDEP.
This purpose of this Funding Opportunity Announcement (FOA) is to support a multicenter, multidisciplinary research team to accelerate the rate of progress in identifying the underlying mechanisms that cause SUDEP, identify risk factors of SUDEP for individuals with epilepsy, and/or develop prevention strategies to reduce SUDEP rates. It is expected that advances in understanding the underlying mechanisms of SUDEP will enable more rapid translation of targeted clinical therapies and prevention strategies.
Potential Epilepsy Drug Discovered Using Zebrafish
An antihistamine discovered in the 1950s to treat itching may also prevent seizures in an intractable form of childhood epilepsy, according to researchers at UC San Francisco who tested it in zebrafish bred to mimic the disease.
The researchers said their unexpected discovery offers a glimmer of hope for families of children with Dravet Syndrome, a rare genetic disorder that manifests in early childhood with disabling, lifelong consequences. These include dozens, if not hundreds, of daily seizures, as well as profound cognitive and social deficits.
“It is very unfortunate for these children and families, as they often live from seizure to seizure,” said Scott C. Baraban, PhD, lead author of the article, UCSF William K. Bowes Jr. Endowed Chair in Neuroscience Research and professor of Neurological Surgery.
Small, translucent and easy to breed, zebrafish are increasingly being used in place of rodents to screen drugs for rare genetic disorders. But no one had used them for epilepsy drug screening until Baraban’s team found zebrafish with a genetic mutation identical to the one that causes Dravet Syndrome.
New Epilepsy Research Could Lead To Targeted Treatments
New genetic research could provide life-changing treatments for the approximately 50 million people with epilepsy worldwide.
A study in the journal Nature has identified two genes and 25 mutations associated with the most serious forms of epilepsy.
By identifying these genes, doctors can develop targeted treatments.
Dr. David Goldstein, director of the Duke Center for Human Genome Variation, and Tracy Dixon-Salazar, a neurobiologist who is associate research director for Citizens United for Research in Epilepsy, join Here & Now to discuss the new research.
Dixon-Salazar started studying neurobiology when her daughter Savannah was diagnosed with a childhood epilepsy.
A manuscript from the workshop “Priorities in Pediatric Epilepsy Research: Improving Children’s Futures Today” will be published in the August 21 issue of Neurology®, the medical journal of the American Academy of Neurology. Epilepsy affects 1/26 people over the course of the lifespan; 10 percent of that risk is concentrated in the first two to three years of life.
Citizens United for Research on Epilepsy (CURE) funded the workshop which focused on infants and toddlers with epilepsy, and involved stakeholders including pediatric epilepsy care providers, educators, clinical researchers, and, most importantly, parents of children with epilepsy. Four themes came out of the workshop: patient outcomes, diagnosis, role of parents and resources outside the medical system; all with an emphasis on early onset epilepsy for children three and under.
“As the mother of a daughter who developed epilepsy during this vital time in her development, I know how critically important control of early life seizures is,” said Susan Axelrod, CURE’s Founding Chair. “I was personally proud of CURE's support and involvement with this workshop because we must pull together all available resources to prevent the lifelong and serious effects epilepsy so often has on children. Workshops like this give these children the best shot at a normal, healthy life."
Caffeine consumption during pregnancy and its effects on the brain during development
Caffeine is the most consumed psychoactive substance in the world, including during pregnancy. Christophe Bernard, Inserm research director, and his team within the "1106 Institut de Neurosciences des Systèmes" unit (Inserm/Aix-Marseille University), have recently described certain harmful effects after caffeine consumption by female mice during pregnancy on the brains of their offspring. This work, despite performed in rodents, suggests that careful studies should be performed to assess the consequences of caffeine consumption by women during pregnancy.
These results are being published in the Science Translational Medicine review of 7th of August 2013.
Many substances have a direct effect on brain function, by modifying the activity of neurons. This applies to antidepressants, anti-anxiety drugs, nicotine, alcohol and recreational drugs such as cannabis, heroin, cocaine, etc. These substances, known as psychoactive substances, bind to proteins present in brain cells and modify their activity. When consumed during pregnancy some of these psychoactive substances can affect the construction of the fetal brain, as the proteins to which they bind play key roles in brain development. The consumption of some of these substances is thus strongly discouraged during pregnancy.
Newly Identified Genetic Factors Drive Severe Childhood Epilepsies
DURHAM, N.C. -- Researchers have identified two new genes and implicated 25 distinct mutations in serious forms of epilepsy, suggesting a new direction for developing tailored treatments of the neurological disorders.
The findings by an international research collaboration, which includes investigators from Duke Medicine, appear Aug. 11 in the journal Nature.
Epileptic encephalopathies are a devastating group of severe brain disorders characterized by the onset of seizures at an early age. The seizures are often accompanied by cognitive and behavioral issues, which can hinder the quality of life of affected children and their families.
The cause of epileptic encephalopathies is largely unknown; while genes are believed to play an important role, specific genes have only been identified in a small number of cases.
“One important aspect of the study is that we identified an unusually large number of distinct disease-causing mutations -- 25 in total, all of which were de novo mutations. These mutations will be an invaluable resource to scientists working to elucidate the underlying causes of the epilepsies,” said study author David Goldstein, PhD, director of the Duke Center for Human Genome Variation.
A de novo mutation is a new alteration in a gene that appears for the first time in a family, and results from a genetic mutation in a parent’s germ cell (egg or sperm).
Learning more about the disorders’ origin will guide development of effective therapies, which is the goal of Epi4K, an international research consortium funded by the National Institute of Neurological Diseases and Stroke (NINDS).
Silky brain implants may help stop spread of epilepsy
CURE is proud to have funded pilot work with Dr. Boison showing that adenosine is involved in epilepsy and it’s a rational target for therapy. In this study, he shows that putting adenosine directly in the brain, it lessened the epilepsy over time.
Silk has walked straight off the runway and into the lab. According to a new study published in the Journal of Clinical Investigation, silk implants placed in the brain of laboratory animals and designed to release a specific chemical, adenosine, may help stop the progression of epilepsy. The research was supported by the National Institute of Neurological Disorders and Stroke (NINDS) and the National Institute of Biomedical Imaging and Bioengineering (NIBIB), which are part of the National Institutes of Health.
The epilepsies are a group of neurological disorders associated with recurring seizures that tend to become more frequent and severe over time. Adenosine decreases neuronal excitability and helps stop seizures. Earlier studies have suggested abnormally low levels of adenosine may be linked to epilepsy.
Rebecca L. Williams-Karnesky, Ph.D. and her colleagues from Legacy Research Institute, Portland, Ore., Oregon Health and Sciences University (OHSU), Portland, and Tufts University, Boston, looked at long-term effects of an adenosine-releasing silk-implant therapy in rats and examined the role of adenosine in causing epigenetic changes that may be associated with the development of epilepsy.
"Epilepsy in a dish": Stem cell research reveals clues to disease's origins and may aid search for better drugs
ANN ARBOR, Mich. — A new stem cell-based approach to studying epilepsy has yielded a surprising discovery about what causes one form of the disease, and may help in the search for better medicines to treat all kinds of seizure disorders.
The findings, reported by a team of scientists from the University of Michigan Medical School and colleagues, use a technique that could be called “epilepsy in a dish”.
By turning skin cells of epilepsy patients into stem cells, and then turning those stem cells into neurons, or brain nerve cells, the team created a miniature testing ground for epilepsy. They could even measure the signals that the cells were sending to one another, through tiny portals called sodium channels.
In neurons derived from the cells of children who have a severe, rare genetic form of epilepsy called Dravet syndrome, the researchers report abnormally high levels of sodium current activity. They saw spontaneous bursts of communication and “hyperexcitability” that could potentially set off seizures. Neurons made from the skin cells of people without epilepsy showed none of this abnormal activity.
Anti-rejection drug reduces seizures in patients with genetic disorder, say doctors at Texas Children's Hospital, Baylor College of Medicine and Cincinnati Children's Hospital
Everolimus, a drug used to treat cancers and prevent rejection of transplanted organs, reduced the occurrence of seizures in patients with a genetic disorder called tuberous sclerosis complex in a small prospective study conducted by experts at Texas Children's Hospital, Baylor College of Medicine and Cincinnati Children's Hospital Medical Center and reported online in the journal Annals of Neurology (http://onlinelibrary.wiley.com/doi/10.1002/ana.23960/abstract).
Tuberous sclerosis complex results from faulty signaling in a key molecular pathway, causing abnormal cell growth that affects the skin, brain, lungs and heart, said Dr. Angus Wilfong, director of the comprehensive epilepsy program at Texas Children's Hospital and associate professor of pediatrics and neurology at Baylor College of Medicine. The seizures suffered by patients with the disorder occur because of the abnormal growths in the brain, said Wilfong, an author of the report.
Everolimus suppresses the activity of the mTOR pathway, which is overactive in this disorder, said Wilfong.
Patients with early onset and transient symptoms in early Alzheimer's disease -- or its harbinger, amnestic mild cognitive impairment (MCI) -- may also be experiencing seizures, which often aren't convulsive in this setting, researchers suggested.
Epilepsy or subclinical epileptic brain activity was associated with 5.5 to 6.8 years' earlier presentation with cognitive decline symptoms, Keith Vossel, MD, MSc, of the Gladstone Institute of Neurological Disease in San Francisco, and colleagues reported.
Fully 55% of epilepsy in Alzheimer's and amnestic MCI was nonconvulsive, instead being marked by transient cognitive symptoms such as aphasia, amnestic spells, sensory phenomena, or deja vu.
Those features should raise clinical suspicion for seizures, the group suggested online in JAMA Neurology.
"Careful identification and treatment of epilepsy in such patients may improve their clinical course," they wrote, adding that the "findings add to the mounting evidence that Alzheimer's disease-related neural network hypersynchrony is an early and potentially treatable component of the disease."
CURE Grantee Dr. James McNamara: 2-week treatment found to prevent epilepsy in mice gives hope for drug development
Temporal lobe epilepsy, the most common form of epilepsy, is characterized by recurrent seizures throughout life and often behavioral abnormalities, with devastating impacts on patients and their families. Unfortunately, the condition is often not responsive to anticonvulsants. Now scientists report online June 20 in the Cell Press journal Neuron that targeting a particular signaling pathway in mice can prevent the development of temporal lobe epilepsy with just two weeks of treatment, offering hope that researchers will be able to develop effective drugs to mitigate recurrent seizures and the development of epilepsy. Many patients with temporal lobe epilepsy experience an initial episode of prolonged seizures, known as status epilepticus, which is often followed by a period of seizure-free recovery before individuals develop recurring seizures. Research in animals suggests that the prolonged seizures in status epilepticus cause or contribute to the development of epilepsy.
"An important goal of this field has been to identify the molecular mechanism by which status epilepticus transforms a brain from normal to epileptic," says Dr. James McNamara, of the Duke University Medical Center in Durham. "Understanding that mechanism in molecular terms would provide a target with which one could intervene pharmacologically, perhaps to prevent an individual from becoming epileptic."
BALTIMORE -- Cardiopulmonary abnormalities were associated with predictable patient and seizure characteristics in in children with epilepsy, researchers reported here.
Seizure-related apnea was associated with younger age, symptomatic-generalized seizure (versus primary-generalized seizure), seizure duration, anti-epileptic drug use, and seizure-related bradycardia, according to Kanwaljit Singh, MD, of Boston Children's Hospital, and colleagues.
Seizure-related tachypnea was associated with age, right-sided seizure, and was inversely related to anti-epileptic drug use, Singh said in a poster presentation during the Associated Professional Sleep Societies meeting.
As announced earlier this year, CURE has partnered with the Howard Hughes Medical Institute’s (HHMI) Medical Research Fellows Program to provide support for up to three medical students to conduct mentored research on epilepsy.
CURE is pleased to announce that two students have been chosen as HHMI-CURE Medical Fellows.
Cell Transplant Holds Significant Potential for Patients with Epilepsy
Chicago, May 6, 2013 - In a new paper published in Nature Neuroscience, a group of investigators at University of California, San Francisco suggest that an interneuron-based cell transplant holds therapeutic potential in animals with epilepsy, and offers real hope for its potential in humans.
Scott Baraban, PhD, Robert Hunt, PhD and colleagues report that injecting progenitors, or stem cells, of inhibitory neurons into the hippocampus of adult epileptic mice (the region of the brain necessary for learning and memory) reduced the frequency of seizures and restored behavioral deficits in spatial learning.
This study provides powerful preclinical evidence that stem cell transplantation should continue to be studied as a potential novel therapy for people with epilepsy.
In 2004, CURE granted Dr. Baraban a 1-year, $50,000 award to study whether transplanted stem cells can survive and functionally integrate into the brain of adult mice; in 2007, he was awarded another 1-year grant for $75,000. The goal of this grant was to use the transplantation technique he had validated and see if he could correct abnormal brain activity in a mutant mouse.
CURE Forms First Dream Team to Fight Childhood Epilepsy Syndrome
Since announcing the launch of its new Infantile Spasms Research Initiative last month, Citizens United for Research in Epilepsy (CURE) has awarded eight teams of investigators with $1.3 million in grants to proceed with cutting-edge research to find a cure for infantile spasms, a rare childhood epilepsy syndrome. Infantile Spasms (IS) can have profoundly negative long-term developmental and cognitive consequences. Currently available treatments are often ineffective and frequently associated with substantial adverse effects.
For the first time, a small device implanted in the brain has safely and accurately predicted the onset of seizures in a subset of adults whose epilepsy doesn't respond to drugs, according to a first-in-man study.
But implanting the device was not without risk: 11 device-related adverse events were noted within 4 months of implantation of the intracranial electroencephalographic monitoring system in 15 patients, Mark Cook, MBBS, of St. Vincent's Hospital, Melbourne, Australia, and colleagues wrote in an article published online by Lancet Neurology.
A total of four serious adverse events occurred during 12 months follow-up, but two of those events resolved without further complications.
As for efficacy, after 4 months, 11 of the 15 patients met criteria to move on the actual testing phase, with high likelihood performance estimate sensitivities ranging from 65% to 100%.
Epilepsy Foundation To Present Epilepsy Therapy Project Lifetime Accelerator Award To Henrik Klitgaard, Ph.D., Recognizing Contributions To New Therapies
LANDOVER, Md., April 30, 2013 /PRNewswire-USNewswire/ -- The Epilepsy Foundation announced today that Henrik Klitgaard, Ph.D., Vice President and Fellow, Neurosciences Therapeutic Area, UCB, has been named the recipient of the Epilepsy Therapy Project Lifetime Accelerator Award in recognition of his commitment and contributions to the field of epilepsy and to the people affected by it. Dr. Klitgaard will be honored at the Antiepileptic Drug and Device Trials (AED) XII Conference being held May 15-17, 2013, at the Turnberry Isle Miami Hotel, Aventura, FL.
A leading and accomplished researcher in the epilepsy community, Dr. Klitgaard has conducted antiepileptic drug discovery in the pharmaceutical industry for more than two decades, most notably contributing to the discovery and development of levetiracetam. Currently, he serves as Vice President and Fellow, Neurosciences Therapeutic Area, UCB, where he has contributed to the research and development of multiple promising new anti-epilepsy drug candidates including PPSI, seletracetam and brivaracetam.
Dr. Klitgaard was selected for the honor by an independent committee of global thought leaders and clinical investigators in epilepsy therapy discovery and development.
Yevgeny Berdichevsky, an assistant professor in the department of electrical and computer engineering, has been awarded a one-year, $100,000 Taking Flight award to support his research into abnormal neural circuitry—a potential cause of epilepsy.
The award is given by CURE, Citizens United for Research in Epilepsy, a 15-year-old organization that has raised more than $26 million to “lead the way to a cure for the epilepsies.” CURE uses an advisory board of more than 300 scientists to review and fund the most promising, cutting-edge projects.
Berdichevsky is the director of Lehigh’s Neural Engineering Lab, where students join him in studying neurobiology from an engineering perspective. Berdichevsky develops brain tissue cultures that are compatible with microfluidic and microelectrode devices and, using a combination of engineering and molecular approaches, studies the abnormal functions that result in epileptic seizures.
“For decades, researchers believed that epilepsy was somehow connected to imbalance of neurotransmitters in the brain,” said Berdichevsky. “As I put aside engineering for a time to learn more about the medical side of things, I began to realize that epilepsy may not just be connected to neurotransmitter levels, but rather a disorder of the neuro-circuitry itself.”
This is a relatively new notion in the field of epilepsy. The long history of medical research in this arena has focused on the idea that chemical imbalances in the brain are the cause. In recent years, however, studies have consistently determined that differences between healthy and epileptic brains may go beyond chemical transmitters..
Berdichevksy embarked upon his own research direction, looking into how an epileptic seizure begins. (A second aspect of his work is seeking a better understanding of the fundamental mechanisms of why seizures even happen.)
Ketogenic Diet offers hope of a seizure-free life to children with epilepsy
Nevin Runge was 10 months old when she had her first seizure. At 2 1/2 she had such a severe seizure that she was transported by helicopter to a local children's hospital. What followed was a cycle of drugs that often caused more harm than good, remembers her mom, April Runge, of Crystal Lake.
Nevin endured side effects that dulled her emotions or made her nerve endings scream with pain-so much so that she couldn't even bear a hug from her parents.
"We tried another drug that gave her a rash, another gave her tremors and she couldn't even hold a spoon to feed herself," April says. "We were pouring 12 medications down her throat a day."
When an EEG showed Nevin was having up to 500 seizures a day, despite all the medication, her parents decided it was time to try the Ketogenic Diet, a high-fat diet for children with epilepsy created in the 1920s that had fallen out of favor as new epilepsy drugs hit the market. But with drugs failing to be the hoped for cure-all, some doctors have begun using the diet for children with epilepsy again, often with amazing results.
In his State of the Union address, the President laid out his vision for creating jobs and building a growing, thriving middle class by making a historic investment in research and development.
Today, at a White House event, the President unveiled a bold new research initiative designed to revolutionize our understanding of the human brain. Launched with approximately $100 million in the President’s Fiscal Year 2014 Budget, the BRAIN (Brain Research through Advancing Innovative Neurotechnologies) Initiative ultimately aims to help researchers find new ways to treat, cure, and even prevent brain disorders, such as Alzheimer’s disease, epilepsy, and traumatic brain injury.
The BRAIN Initiative will accelerate the development and application of new technologies that will enable researchers to produce dynamic pictures of the brain that show how individual brain cells and complex neural circuits interact at the speed of thought. These technologies will open new doors to explore how the brain records, processes, uses, stores, and retrieves vast quantities of information, and shed light on the complex links between brain function and behavior.
In the weeks, months and years after a severe head injury, patients often experience epileptic seizures that are difficult to control. A new study in rats suggests that gently cooling the brain after injury may prevent these seizures.
“Traumatic head injury is the leading cause of acquired epilepsy in young adults, and in many cases the seizures can’t be controlled with medication,” says senior author Matthew Smyth, MD, associate professor of neurological surgery and of pediatrics at Washington University School of Medicine in St. Louis. “If we can confirm cooling’s effectiveness in human trials, this approach may give us a safe and relatively simple way to prevent epilepsy in these patients.”
CURE Grantee Uncovers Potential Cause of Childhood Epilepsy
CURE (Citizens United for Research in Epilepsy) Grantee Peter Crino, MD, PhD, has found important new evidence that the Human papillomavirus (HPV) – the most common cause of cervical cancer – may be linked to childhood epilepsy. This breakthrough discovery may lead to a definable cause and treatment for focal cortical dysplasia type IIB (FCDIIB). Dr. Crino’s work has significant ramifications for how we think about this type of childhood epilepsy and could lead to new approaches to treatment and prevention.
Specifically, the connection was identified in brain tissue from children who had surgery for FCDIIB, a form of focal malformations of cortical development (FMCD). Cortical dysplasias are malformations of the brain which occur during development and often associated with severe and difficult to treat epilepsy. Seizures in children with FMCD are often resistant to treatment with existing drugs.
CURE and HHMI Form Partnership to Foster Future Physician-Scientists in Epilepsy Research
Chicago, IL - CURE is pleased to announce an exciting new partnership with the Howard Hughes Medical Institute's Medical Research Fellows Program. CURE will provide financial support for up to three medical students each year to conduct mentored research on epilepsy.
The goal of HHMI's Medical Research Fellows Program is to increase the number of future physician-scientists and medically-trained researchers by immersing medical, dental, and veterinary students in full-time research early in their professional education. This is done before students make plans for their residency or postgraduate training so that they can consider a career as a physician-scientist, dentist- or veterinarian-scientist. The Fellows gain the research training by engaging in basic, translational or applied biomedical research for a full year at academic or nonprofit institutions.
Mild Brain Cooling After Injury Prevents Epileptic Seizures
Researchers at the University of Washington report in an upcoming issue of Annals of Neurology that mild cooling of the injured brain prevents the later development of epileptic seizures.
Epilepsy can either be genetic or acquired due to brain injury. Traumatic head injury is the leading cause of acquired epilepsy in young adults, and is often difficult to manage with available antiepileptic drugs. The mechanisms leading to the onset of epileptic seizures after brain injury are not known and there is currently no treatment to cure it, prevent it, or even limit its severity.
Neurologist Andrew Wilner, MD, discusses the first Partners Against Mortality in Epilepsy (PAME) conference with conference co-chairs Jeffrey Buchholter, MD, PhD, Pediatric Neurologist and Epileptologist at the Barrow Neurologic Institute in Phoenix, Arizona, and Gardiner Lapham, RN, MPH, Member of the Board of Directors of CURE: Citizens United for Research in Epilepsy. The meeting took place June 21-24, 2012, in Evanston, Illinois, and brought together a diverse group of scientists, clinicians, families, and others interested in advancing efforts aimed at preventing sudden death in people with epilepsy.
Laser Zaps Seizures in Rats
A laser system that targets the thalamus instantly stopped seizure-inducing signals to the cerebral cortex of rats, suggesting a new way of controlling intractable seizures in humans without injuring the vulnerable cortex.
Researchers led by John R. Huguenard, PhD, at Stanford University learned that post-thrombotic cortical stroke resulted in neuronal hyperexcitability in the thalamus, which is distant from the cortex but connected to it. To see if this process could be interrupted in real time, they developed an automated implantable system that emitted 594-nm light to the affected area as soon as seizure activity began.
Researchers Use Light to Turn Off Seizures
Epilepsy may not be the first side effect to come to mind when you think about the after-effects of a stroke. But epileptic seizures are a relatively common result of a stroke; some studies estimate that more than 10% of stroke victims develop seizures afterward.
Despite the prevalence of epilepsy among stroke sufferers, researchers have had little idea why the two are connected. Because strokes often involve the injury or death of a region of the cortex -- the outer shell of the brain -- scientists had postulated that the function of the areas around the brain might be disrupted by the injury, leading to seizures.
White and Wilcox awarded two grants to investigate difficult-to-treat epilepsies
Brain Institute Investigator John White, Ph.D., and Professor of Pharmacology and Toxicology Karen Wilcox, Ph.D., were awarded $1.7 Million from the National Institute of Neurological Disorders and Stroke, and $300,000 from the Ben B. and Iris M. Margolis Foundation to study the roles of astrocytes in epilepsy.
There are over three million Americans with epilepsy, and for nearly one-third of them, current treatments are ineffective. Amongst the epilepsies that are difficult to treat are temporal lobe epilepsy (TLE) and viral-induced epilepsy. This is in part because the development of these types of epilepsies is not well understood.
Evidence suggests that astrocytes – long dismissed by scientists as passive support cells for neurons – undergo dramatic changes when TLE and viral-induced epilepsies are triggered in animal models. White and Wilcox will research how astrocyte dynamics influence the development of TLE and infection-induced epilepsies.
An international team of researchers, led by scientists at the University of California, San Diego and Yale University schools of medicine, have identified a form of autism with epilepsy that may potentially be treatable with a common nutritional supplement.
The findings are published in the September 6, 2012 online issue of Science.
Roughly one-quarter of patients with autism also suffer from epilepsy, a brain disorder characterized by repeated seizures or convulsions over time. The causes of the epilepsy are multiple and largely unknown. Using a technique called exome sequencing, the UC San Diego and Yale scientists found that a gene mutation present in some patients with autism speeds up metabolism of certain amino acids. These patients also suffer from epileptic seizures. The discovery may help physicians diagnose this particular form of autism earlier and treat sooner.
CURE Grantee Receives Department of Defense Grant to Continue Research on TRH
Dr. Michael J. Kubek, Ph.D., who was awarded this grant, has been doing research on thyrotropin releasing hormone (TRH) for the past three decades. The Army funded international research collaboration on suicidal ideation is the latest addition to his research.
Implantable Devices Could Detect and Halt Epileptic Seizures
Epilepsy affects some 2.7 million Americans—more than Parkinson’s disease, multiple sclerosis and amyotrophic lateral sclerosis (Lou Gehrig's disease) combined. More than half of patients can achieve seizure control with treatment, yet almost a third of people with epilepsy have a refractory form of the disease that does not respond well to existing antiepileptic drugs. Nor are these patients typically helped by the one implanted device—Cyberonics' Vagus Nerve Stimulator (VNS)—that has had U.S. Food and Drug Administration approval for treatment of epilepsy since 1997.
Surgery for epilepsy is usually seen as a last resort for patients when medications do not work, and it is often delayed for many years after the failure of drug treatment. Now a randomized, controlled trial suggests that surgery as soon as possible after the failure of two antiepileptic drugs is a significantly better approach than continued medical care.
New York, February 9, 2012 – A groundbreaking study published in Elsevier's Epilepsy & Behavior provides evidence in mouse model that drugs known as Selective Serotonin Reuptake Inhibitors (SSRIs; one category of antidepressants) may reduce the risk of Sudden Unexpected Death in Epilepsy (SUDEP).
SUDEP is estimated to be the cause of death in up to 17% of patients with epilepsy who die from their condition. Evidence for cardiac and respiratory causes of SUDEP has been presented, but no effective prevention of SUDEP has yet been developed.
Several studies have proposed that DBA mouse models of seizure-induced sudden death that are due to respiratory arrest may be useful models for respiratory-related causes of SUDEP. In these models, the generalized convulsive seizure is induced by acoustic stimuli, and the incidence of death after the seizure can be greatly reduced or prevented by providing rapid respiratory support.
Study Finds Superior Drug Combo for Difficult-to-Control Epilepsy
By Leila Gray UW Health Sciences/UW Medicine
A combination of two common drugs, lamotrigine and valproate, is more effective in treating difficult-to control epilepsy than other anti-epileptic regimens, according to a University of Washington report to be published online this week in Neurology, the journal of the American Academy of Neurology.
More than 3 million Americans have epilepsy, and about one million of these have a difficult-to-treat form.
In a large-scale, retrospective study of a population of patients with very difficult-to-control epilepsy, researchers discovered that only the lamotrigine/valproate treatment regimen, out of the 32 drug combinations studied, significantly decreased seizure frequency in this group.
This specific combination reduced seizure frequency by about half, on average, compared to other regimens. Although it rarely produced complete freedom from seizures, the combination was superior to others in reducing the number of convulsive seizures patients experienced.
Irvine, Calif., June 27, 2011 – UC Irvine and French researchers have identified a central switch responsible for the transformation of healthy brain cells into epileptic ones, opening the way to both treat and prevent temporal lobe epilepsy.
Epilepsy affects 1 to 2 percent of the world’s population, and TLE is the most common form of the disorder in adults. Among adult neurologic conditions, only migraine headaches are more prevalent. TLE is resistant to treatment in 30 percent of cases.
The use of the newer-generation antiepileptics during the first trimester of pregnancy was not associated with an increased risk of major birth defects, a large population-based cohort study found.
Among infants exposed to any of the newer antiepileptics, 3.2% had major birth defects, as did 2.4% of unexposed infants, according to Ditte Mølgaard-Nielsen, MSc, and Anders Hviid, DrMedSci, of Statens Serum Institut in Copenhagen.
FDA Accepts Lundbeck Inc. Submission of New Drug Application for Clobazam
March 4, 2011
Lundbeck Inc. today announced the U.S. Food and Drug Administration (FDA) has accepted for review a New Drug Application (NDA) for the investigational compound clobazam as adjunctive therapy in treating seizures associated with Lennox-Gastaut syndrome (LGS) in patients two years and older. The filing was assigned a standard review and an action letter is anticipated in October 2011. Additionally, Lundbeck announced Onfi™ (pronounced “on-fee”) as the proposed U.S. trade name for clobazam.