Medical Professional Publications

Genetics of Epilepsy Study Currently Underway at Nationwide Children’s Hospital

(From the November 2014 Research Now)

A study currently underway at Nationwide Children’s Hospital hopes to identify the genetic causes of Idiopathic Generalized Epilepsy (IGE) in order to one day develop new treatment options, free of the side effects of current antiepileptics, which would address the causes of epilepsy in children and adolescents, if an actual cure is possible.

Epilepsy affects about one percent of the population (more than 2.5 million people), but only some forms of epilepsy are known to have a genetic basis. The genetic epilepsies are complex conditions and probably result from the interaction of several genes at once. This makes understanding the causes of these epilepsies much harder than for other medical conditions in which genes play a role. How genes and combinations of genes cause disease is something that David A. Greenberg, Ph.D., has been studying during his 30 year career.

“Understanding the genetic origins may help us develop new tests to provide better diagnoses for patients, and to give better and more personalized information for counseling on complications, suitable treatments and eventual outlook,” said Dr. Greenberg, principal investigator of the study for children and adolescents with epilepsy and their families.

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).

The study is currently recruiting people with epilepsy, or who have a child who has been diagnosed with epilepsy, to participate in the research. 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.

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.

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