The Epilepsy Phenome/Genome Project

The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, international, multi-institutional, collaborative research project, sponsored by the National Institute of Neurological Disorders and Stroke, designed to understand the genes that cause common and rare epilepsies. 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. 27 clinical centers enrolled more than 4,100 participants of families with epilepsy. 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. Documents and questionnaires that provide context to the variables and measurements available through the current study, are available for download from EPGP: Download EPGP Forms. ]]> 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). ]]> EPGP was supported through a planning grant from the patient advocacy organization FACES and The Richard Thalheimer Fund, and commenced in 2007 with funding from the National Institutes of Health. In 7 years, 27 clinical centers in the United States, Australia, and Argentina enrolled more than 4,100 participants of families with epilepsy. The study is now closed to enrollment with phenotyping complete, and is in the DNA-analysis phase. ]]>