Genetics of Epilepsy

Genetics of Epilepsy Study

Our Study

The Family Studies in Epilepsy Program at the Battelle Center for Mathematical Medicine in The Research Institute at Nationwide Children's Hospital is a long-term research study focused on finding the genes involved with inherited forms of Idiopathic Generalized Epilepsies. The research is sponsored by grants from the National Institute of Neurological Disorders and Stroke (NINDS), one of the sections of the National Institutes of Health (NIH). Our study team works in partnership with physicians and hospitals worldwide.

Frequently Asked Questions


What is the purpose of the study?

The purpose of this research study is to find the causes of certain epilepsies that begin during childhood or adolescence and have no known causes:

  • Juvenile Myoclonic Epilepsy (JME): In this form of epilepsy the patient has myoclonic (muscle) jerks usually of the arms and shoulders, most often in the morning after waking up.
  • Juvenile Absence Epilepsy (JAE): In this type of epilepsy the patients have brief spells of staring, each lasting a few seconds. JAE seizures usually start in adolescence but can start as early as about 8 years old. These patients may also experience grand mal seizures.
  • Epilepsy with Grand Mal Seizures upon Awakening (AGM): In this type, patients most often have seizures in the morning shortly after awakening or on awakening from a nap. These type of seizures first appear early in adolescence.
  • Random Grand Mal (RGM): This is a form of epilepsy in which grand mal seizures can occur any time of day (but usually do not occur in sleep).
  • Those who take part in the study will be helping to find the causes of certain seizure types and to advance science to better understand the genetic origins of epilepsy and to eventually find a cure.

    Who can participate in the study?

    Researchers are looking for full families with a family member who started having generalized seizures after the age of 8 years old. Participants can be family members of any age, and the current age of the person with epilepsy does not matter.

    Will I be able to participate without my family members?

    Yes. Anyone meeting our study criteria may participate with or without family members.

    What will happen during the study?

    The study consists of a short interview about medical/seizure history and a saliva sample from each family member (both the parents and any siblings) of the person with seizures. For an average family of four members, this typically takes about one hour to complete.

    Will I be able to have my personal or family genetic information from this study?

    No. This study is not for diagnostic purposes. Results provide meaningful statistical information only for the entire group of participants and cannot yet provide results relevant to specific individuals.

    Can I receive genetic counseling from this study?

    No. We are not certified to provide genetic counseling, but are more than happy to refer you to specialists in the field.

    Can this study determine if my children will have epilepsy?

    No. One of the purposes of our work is to be able to predict a person’s risk for epilepsy but we do not yet have sufficient understanding of what causes epilepsy to be able to provide such information.

     

    Will my insurance company learn of my participation in this study?

    No. Study participation is completely confidential; your medical information will not be shared with any third party or organization. Once we receive your saliva sample, all names are removed and replaced by numbers. All files and clinical information are stored in a locked cabinet in a locked office, per institutional research regulations.

    How do I benefit from participating in this study?

    By joining our study, you and your family play an important role in finding causes of certain seizure types. You contribute to advancing science and understanding the genetic origins of epilepsy.

    How do I benefit from participating in this study?

    If you have any questions about the study, you may contact the study coordinator, Sandra Solove, at 614-355-6693 or Sandra.Solove@NationwideChildrens.org

    How can I help the study?

    There are a variety of ways you can help the study. If you have Idiopathic Generalized Epilepsy, you may contact any member of the study team to participate. If you do not have epilepsy or have it in your family, you can become a volunteer control. Additionally, as a study that receives its support from the National Institutes of Health, we are always looking for contributions of any kind.