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Epilepsy Phenome/Genome Project (EPGP)

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified January 2014 by University of California, San Francisco.
Recruitment status was:  Active, not recruiting
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
University of California, San Francisco Identifier:
First received: October 30, 2007
Last updated: January 15, 2014
Last verified: January 2014
The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy.

Localization-related Epilepsy
Infantile Spasms
Lennox-Gastaut Syndrome
Periventricular Heterotopias

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy

Resource links provided by NLM:

Further study details as provided by University of California, San Francisco:

Primary Outcome Measures:
  • 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 ]

Biospecimen Retention:   Samples With DNA
whole blood

Enrollment: 4150
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

Detailed Description:

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.


Ages Eligible for Study:   up to 60 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
EPGP will recruit persons with specific forms of epilepsy.

Inclusion Criteria:

  • Current age from 4 weeks to 60 years.
  • Clear diagnosis of epilepsy, i.e., a lifetime history of two or more unprovoked seizures.
  • Age at first unprovoked seizure younger than 40 years.
  • High quality clinical and laboratory data (i.e., neuroimaging, EEG) must be available throughout the patient's history
  • All patients with localization-related epilepsy (LRE) or idiopathic generalized epilepsy (IGE) must have a first-degree relative (parent, child, or sibling) with non-symptomatic (idiopathic or cryptogenic) epilepsy who is willing and available to participate.
  • All patients with infantile spasms (IS), Lennox-Gastaut syndrome (LGS), or malformations of cortical development (MCD) must have both biological parents available and willing to participate.

Exclusion Criteria:

  • Clinical and laboratory data do not allow a clear determination of whether the patient has epilepsy, or whether the diagnosis is LRE, IGE, IS, LGS, or MCD.
  • Exclusively febrile seizures or other acute symptomatic seizures.
  • Identified antecedent cause of epilepsy (i.e., a structural or metabolic insult to the CNS prior to the first unprovoked seizure, such as stroke, brain tumor, severe head trauma, etc., or a progressive neurodegenerative disorder).
  • Recognized genetic syndrome (e.g., tuberous sclerosis, neurofibromatosis, Rett's or Angelman's syndromes) or chromosomal abnormality. (e.g., aneuploidies, unbalanced translocations, or chromosomal deletions and duplications detectable by conventional medical karyotyping).
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00552045

  Show 25 Study Locations
Sponsors and Collaborators
University of California, San Francisco
National Institute of Neurological Disorders and Stroke (NINDS)
Principal Investigator: Daniel Lowenstein, MD University of California, San Francisco, Department of Neurology
Principal Investigator: Ruben Kuzniecky, MD New York University, Comprehensive Epilepsy Center
  More Information

Additional Information:
Responsible Party: University of California, San Francisco Identifier: NCT00552045     History of Changes
Other Study ID Numbers: 1R01NS053998-01A1
1R01NS053998 ( Other Identifier: This is an NIH grant number, but it will not accept it as one. )
Study First Received: October 30, 2007
Last Updated: January 15, 2014

Keywords provided by University of California, San Francisco:
infantile spasms
localization-related epilepsy
idiopathic generalized epilepsy
Lennox-Gastaut syndrome
periventricular heterotopias
malformations of cortical development

Additional relevant MeSH terms:
Lennox Gastaut Syndrome
Epilepsies, Partial
Spasms, Infantile
Periventricular Nodular Heterotopia
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Epilepsy, Generalized
Malformations of Cortical Development, Group II
Malformations of Cortical Development
Nervous System Malformations
Congenital Abnormalities
Pathological Conditions, Anatomical
Malformations of Cortical Development, Group III processed this record on April 26, 2017