HOPE FOUNDATION
Controlling Epileptogenicity in Human Focal Cortical Dysplasia

Massimo Avoli, MD, PhD
Montreal Neurological Institute and Departments of Neurology & Neurosurgery, McGill University / Montreal, PQ, Canada Dipartimento di Fisiologia Umana e Farmacologia, Università di Roma "La Sapienza" / Rome, Italy

Focal Cortical Dysplasia (FCD) is a structural abnormality in the brain, which can lead to seizures, which do not respond to pharmacological treatment. In a second year of CURE funding, Dr. Avoli will be testing the hypothesis that gap-junctions in patients with FCD contribute to seizures and whether repetitive electrical stimulation of FCD networks can prevent seizures.

Gabriella D’Arcangelo, PhD
Baylor College of Medicine / Houston

FALK FOUNDATION
Developmental Phenotype of Seizure-Prone Mice

Stephen C. Heinrichs, PhD
Boston College Department of Psychology

In a mouse model of epilepsy, Dr. Heinrichs will examine the role of parental care during early development in halting or delaying the onset of seizures. Better understanding of the importance of early environment could allow for the design of non-drug interventions, which could potentially be used in children who are at risk of developing epilepsy.

Pathogenesis of Cortical Lesions in a Model of Tuberous Sclerosis

Arnold R. Kriegstein, MD, PhD
University of California, San Francisco

THE MAGGIE LOEFFEL AWARD
Development of Novel Antiepileptic Drugs

Edward Perez-Reyes, PhD
University of Virginia

Mutations in certain genes may be responsible for hyperexcitability in the brain. A specific T channel gene has been associated with childhood absence epilepsy, a type of epilepsy in which the child exhibits staring spells during which he or she is unaware and unresponsive. Dr. Perez-Reyes strives to develop a T-type channel blocker as a novel anti-epileptic medication, which can be used in significantly lower doses to substantially reduce debilitating treatment side effects for these children.

HOPE FOUNDATION
Gene Expression in Cortical Dysplasia

Brenda E. Porter, MD, PhD
Children’s Hospital of Philadelphia

Many children with hard to treat epilepsy have an abnormality called focal cortical dysplasia (FCD) in which, during brain development, neurons become disorganized and misalign. This study tries to understand which molecules in the cortical dysplasia neurons are different and how these differences cause epilepsy. The long term aim is to investigate possible means of “turning off” the cortical dysplasia neurons in the hope of fulfilling CURE’s goal of no seizures/no side effects.

Molecular Mechanism of Limbic Epilepsy in a New Genetic Mouse Model

Yan Yang, PhD
The Jackson Laboratory / Maine

Mouse models of epilepsy have contributed to the discovery of human epilepsy genes and all antiepileptic drugs to date. Dr. Yang has identified a new gene (BRUNOL4), which plays a role in a type of epilepsy originating in the temporal lobe. He will investigate how a deficiency in this gene leads to recurrent seizures in mice, and evaluate novel anti-epileptic therapies using this new mouse model of epilepsy.

Development of Novel Epilepsy Treatments Utilizing Embryonic Progenitor Cells

Scott C. Baraban, PhD
University of California, San Francisco

The aim of Dr. Baraban’s project is to investigate whether stem cells transplanted into the central nervous system of mice can alter synaptic function in the brain, change the overall level of excitability in the brain and act as a “cure” for patients with uncontrollable epilepsy.

Therapeutic Efficacy of Environmental Enrichment Following Early-life Seizures

Sookyong Koh, MD, PhD
Children’s Memorial Hospital / Northwestern University

The potential of an intense educational program as a therapeutic tool for children with epilepsy has received very little attention, though it is believed to be effective for other neurological disorders. There is currently no effective intervention for children with epilepsy to prevent the long-term brain damage and neurological effects of seizures. The goal of Dr. Koh’s project is to study, in young rats, the effectiveness of environmental enrichment in reversing seizure-induced brain damage.

Vivian I. Teichberg, PhD
Weizmann Institute of Science, Israel

In the last few years, immunotherapy has emerged as a possible treatment for diseases of the central nervous system, including epilepsy. Dr. Teichberg is investigating the scope and efficacy of vaccination against a particular AMPA receptor in epilepsy. This is an important preliminary look at the potential of vaccination in epilepsy as a means of achieving ‘no seizures-no side effects’.

Jana Veliskova, MD, PhD
Albert Einstein College of Medicine / Bronx, NY

Carl L. Faingold, PhD
Southern Illinois University School of Medicine

Sudden Death in Epilepsy (SUDEP) accounts for 5-17% of deaths in patients with epilepsy, including children. The aim of this proposal is to understand what brain abnormalities cause animals to be susceptible to SUDEP and determine if blocking the action of certain naturallyoccurring brain chemicals can prevent sudden death in those animals.

Edward B. Bromfield, MD
Brigham and Women’s Hospital / Boston

The objective of Dr. Bromfield’s study is to determine whether polyunsaturated fatty acids can be used safely and effectively to treat epilepsy. Fatty acids have been shown to protect against seizures in animal models, and there is some evidence of the same effect in humans. This is the first controlled, double-blind trial in humans, and will provide the foundation for a larger multicenter trial if efficacy, safety and tolerability are confirmed.

Karin Borges, PhD
Emory University

Gregory A. Worrell, MD, PhD
Mayo Clinic / Rochester, MN

Advances in epilepsy surgery and the advent of implantable brain devices which predict the onset of seizures and administer treatment, require greater accuracy in pinpointing the exact location where seizures begin. Dr. Worrell’s study of the usefulness of high-frequency epileptiform oscillations to more accurately locate the area of the brain involved in the seizure, is a unique collaboration combining the neuroengineering strength of the University of Pennsylvania with Mayo Clinic’s large surgical epilepsy practice, translating engineering advances into clinical practice.