1. Enrollment at St.Barnabas
P. Widdess-Walsh, MD, E. Geller, MD, J. Misajon, RN, B. Botti, J. Devinsky, O. Devinsky, MD
Institute of Neurology and Neurosurgery at St. Barnabas, Livingston, NJ
Funded by NIH grant U01 NS subcontract 5765sc St. Barnabas Medical Center
Study Overview
Study Enrollment
Enrollment at St.Barnabas
The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, 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 controls (persons without epilepsy), and to compare the phenotypic information with genomic information. EPGP will provide a national 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. 1
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 seizure younger than 30 years.
Patients with idiopathic epilepsy must have a sibling with non-symptomatic epilepsy who is willing to participate.
Patients with infantile spasms (IS), Lennox-Gastaut syndrome (LGS), or malformations of cortical development (MCD) – TRIADs - and who have both biological parents willing to participate.
Summary
EPGP enrollment progressing well at St.Barnabas and throughout the study
13 additional sites being added in to meet target enrollment requirements
St. Barnabas Medical Center consistently among the highest enrollment and phenotyping activities sites in EPGP
Data and genomic analysis not initiated at this point of the study

2. Peter Widdess-Walsh, MD Eric Geller, MD The EPGP Consortium
Inclusion Criteria
-Clear diagnosis of epilepsy
-Age at first unprovoked seizure <30 years
-Current age from 4 weeks to 45 years
Protocol
Collect large amount of phenotypic and genotypic data
Blood samples for establishment of cell lines, DNA extraction, storage and subsequent testing, genotyping and analysis
Controls recruited from primary care at each center, matched for gender, age (by decade), and self-reported ethnicity
Correlation with phenotypic data 1
Exclusion Criteria
-No clear determination of epilepsy diagnosis
-Exclusively febrile or other acute symptomatic seizures
-Identified antecedent cause of epilepsy (ie CNS injury, stroke, tumor, head trauma or neurodegenerative disorder)
-Recognized genetic syndrome or chromosomal abnormality
Peter Widdess-Walsh, MD
(973)