Genetics and Epilepsy

Epilepsy is one of the most common neurological conditions, affecting 1-2% of the population. Epilepsy is a set of brain disorders in which a person experiences a periodic disruption or change in the normal activity of neurons (nerve cells in the brain). These disruptions are known as seizures and can result in loss of consciousness, convulsions, and altered behaviors or sensations. Seizures can have a profound negative impact on the health and quality of life of the person experiencing them.

Research

Many families contain multiple individuals that are affected with epilepsy, indicating that there is a strong genetic contribution to many types of epilepsy. However little is known about the specific genes or genetic alterations that cause epilepsy. The goal of our research is to identify and understand the specific genetic alterations that cause seizures. This knowledge will help in the development of improved diagnoses and treatments.

Eligibility

We are recruiting interested participants with a strong family history of epilepsy (with 3 or more close or extended relatives who have or have had seizures)

OR

2) severely affected infants, such as those with infantile spasms (West syndrome) or Severe Myoclonic Epilepsy of Infancy (SMEI), with or without positive family history.

Participants

Participation can usually be completed in one 40 minute session. Individuals answer questions about the family's seizure history, understand and sign an informed consent form, complete a one page personal information form, and do a one time blood draw. This is a research study and there is no cost or compensation associated with participation.

Learn More

Please contact the following individuals for more information:

Aimee Anido, MS CGC (aanido@emory.edu)
Research Genetic Counselor
Phone (404) 712-8232
FAX (404) 727-3949

Andrew Escayg, PhD (aescayg@genetics.emory.edu)
Investigator for Epilepsy
Department of Human Genetics
Principal Contact
(404) 712-8328

Allan I. Levey, MD, PhD
Principal Investigator
Department of Neurology