What is the Epilepsy Phenome/Genome Project (EPGP)?
EPGP is looking at how our genes contribute to the development of certain types of epilepsy. Genes are made up of DNA, the chemical blueprint your body uses to build and maintain cells such as the neurons in your brain. There are a number of ways that changes in the DNA that make up genes can affect our health.
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Generalized Epilepsy |
Localization-Related Epilepsy |
Rare Epilepsies |
| Generalized epilepsy is a common type of epilepsy in which electrical impulses from throughout the brain cause the patient to experience a seizure. Because the brain is having abnormal electrical activity all at once, the seizure is usually characterized by an impairment of consciousness and oftentimes total body convulsions. Terms commonly used for these types of seizures are tonic-clonic (grand mal) seizures and absence (petit mal) seizures. |
Localization-related epilepsy is another common type of epilepsy in which abnormal electrical impulses arise from specific parts of the brain. Therefore, the seizures may be more subtle and have characteristics such as a partial impairment of consciousness, problems with language, emotional processing, or memory, and abnormal movements or sensations from one part of the body only. These types of seizures are termed "focal" or "partial" seizures. |
There are some rarer forms of epilepsy which are also a focus of EPGP. These include two types of epilepsy which occur in infants and children, have a variety of seizure types, and are typically poorly controlled with medication: infantile spasms and Lennox-Gastaut Syndrome. Also, EPGP is interested in seizures that arise from focal abnormalities of brain development such as Polymicrogyria (PMG) and periventricular nodular heterotopia (PVH). |
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How is EPGP interested in these types of epilepsy? |
| For any gene, there can be many versions (allelic variants), any of which may appear "normal" until scientists study large numbers of people to find out whether certain versions of the gene lead to a tendency for a condition such as epilepsy. |
EPGP investigators are looking for patients with generalized epilepsy or localization-related epilepsy who also have a brother or sister with epilepsy (sibling pair). The sibling pairs will be matched with volunteers who do not have epilepsy, and their genes will be studied to find the allelic variants that contribute to the development of these types of epilepsy. |
Sometimes a piece of DNA gets deleted or an extra copy is made. EPGP investigators are looking for patients with infantile spasms, Lennox-Gastaut Syndrome, and abnormalities of brain development who have both parents able to donate DNA for study. The patient's genes will be compared with their parents' genes to see which gene components have been added or deleted. |
Study Design
EPGP is a team of 13 clinical centers across the United States working in collaboration with the National Institutes of Health and various organizations devoted to the care of patients with epilepsy. The study will include 1500 pairs of siblings with generalized or localization-related epilepsy, 1500 controls who do not have epilepsy, and 750 patients with rare epilepsies along with their parents. Everyone who volunteers for EPGP will be asked to give a sample of their DNA and answer some questions asked by a study nurse or physician.
To learn more about who may participate, click here.
Click here to read more information about epilepsy and seizures at the Epilepsy Foundation and epilepsy.com.
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