Epilepsy Phenome/Genome Project

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Brief Title

Epilepsy Phenome/Genome Project

Official Title

Epilepsy Phenome/Genome Project: A Phenotype/Genotype Analysis of Epilepsy

Brief Summary

      The purpose of this study is to collect detailed information about the characteristics and
      genetics of a large number of 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.

Study Type


Primary Outcome

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.



Study Arms / Comparison Groups

Description:  individuals with epilepsy


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

November 2007

Completion Date

October 2018

Primary Completion Date

December 2013

Eligibility Criteria

        Inclusion Criteria:

          -  Current age from 4 weeks to 60 years.

          -  Clear diagnosis of epilepsy, i.e., a lifetime history of two or more unprovoked

          -  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

          -  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).




4 Weeks - 60 Years

Accepts Healthy Volunteers



Daniel Lowenstein, MD, , 

Location Countries


Location Countries


Administrative Informations



Organization ID


Secondary IDs


Responsible Party


Study Sponsor

University of California, San Francisco


 National Institute of Neurological Disorders and Stroke (NINDS)

Study Sponsor

Daniel Lowenstein, MD, Principal Investigator, University of California, San Francisco, Department of Neurology

Verification Date

November 2018