Epilepsy Phenome/Genome Project (EPGP)
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.
|Study Design:||Observational Model: Case Control
Time Perspective: Prospective
|Official Title:||Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy|
- EPGP will recruit persons with specific forms of epilepsy. DNA will be isolated from participants' blood and genetic variants associated with common forms of epilepsy will be identified. [ Time Frame: over 4.5 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples With DNA
|Study Start Date:||November 2007|
|Estimated Study Completion Date:||April 2014|
|Primary Completion Date:||December 2013 (Final data collection date for primary outcome measure)|
individuals with epilepsy
Epilepsy is one of the most common neurological disorders and is a major public health concern. Approximately 30 percent of people with epilepsy have medically intractable epilepsy, and the medical and social consequences of the disorder are enormous. Treatments developed for epilepsy have largely been experimental rather than based on knowledge of basic mechanisms because the mechanisms are poorly understood.
The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, international, multi-institutional, collaborative research project aimed at advancing the understanding of the genetic basis of the most common forms of epilepsy.
The overall goal of EPGP is to collect detailed, high quality phenotypic (i.e., characteristics of individuals, from the molecular level to the whole person) information on persons with epilepsy and to compare the phenotypic information with genomic information. EPGP will provide a resource that may lead to many discoveries related to the diagnosis and treatment of epilepsy, including the eventual development of new therapies based on a better understanding of causes of the disorder.
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|Principal Investigator:||Daniel Lowenstein, MD||University of California, San Francisco, Department of Neurology|
|Principal Investigator:||Ruben Kuzniecky, MD||New York University, Comprehensive Epilepsy Center|