DATA

The EGI database includes raw exome sequence data files (BAM/FASTQ) and the accompanying de-identified clinical information:

  1. Demographics (date of birth, age, gender, race and ethnicity)
  2. Family history of epilepsy and other relevant medical conditions
  3. Birth and neonatal history
  4. Epilepsy history (risk factors, age of first seizure, seizure type(s), EEG results and neuroimaging results)
  5. Development and cognitive function information (development delays, IQ)
  6. Other medical conditions that are present in the patient
  7. Abnormal genetic or metabolic testing
  8. Epilepsy classification, syndrome, etiology, response to treatments and outcome
  9. Participation in any other genetics databases or studies (e.g. Epi4K, EPGP, PERC, REN, SeizureTracker, etc.)

Data in EGI, including exome sequence data and clinical information, does not contain any identifying information. Patient data are assigned a study number and only the treating physician and EGI genetic counseling team know which number is assigned to each patient.

WHAT'S NEXT FOR EGI?

EGI is designed to be a community resource, and the whole exome data within the database is available to the entire research community through two different portals:

  1. The EGI Data Browser, developed by Columbia University (New York City, New York USA), is a catalogue of genetic variants identified from patients sequenced for their diagnosis of epilepsy. The database includes single nucleotide substitution variants (SNVs) and insertion and deletion (indels) variants.
  2. The Database of Genotypes and Phenotypes (dbGaP) is a National Institutes of Health (NIH) sponsored repository charged to archive, curate and distribute information produced by studies focused on genetics. De-identified genetic information from EGI is available to researchers who request access to the data.

Researchers will only receive de-identified data with no information that can be linked back to patients or family members.

The EGI initiative has reinforced CURE Epilepsy’s leadership in epilepsy genetics research through:

  • Facilitating the collection of whole exome data to advance research, both US-based and abroad and making it available for research.
  • Identifying new genes associated with epilepsy as a result of reanalysis of exome data.
  • Identifying treatments to try, treatments to avoid, and risk for SUDEP for certain genetic cases of epilepsy.
  • Elevating awareness and funding for genetic research into the causes of epilepsy.
  • Helping doctors diagnose patients who have epilepsy.
  • Advancing precision medicine in epilepsy.

Related Research

Related News