Overview
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 who:
- Have a strong family history of epilepsy - with 3 or more close or extended relatives who have or have had seizures.
or - Are infants with severe epilepsy of unknown cause with or without a positive family history.