Epilepsy Genetics Program Frequently Asked Questions (FAQs)

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What is the Goal of Epilepsy Genetics Research?

Many children with epilepsy experience seizures which respond well to treatment. A few types of epilepsy, however, are characterized by seizures which begin very early in childhood and are associated with severe intellectual and/or developmental disabilities. These conditions, known as progressive epileptic encephalopathies, are particularly severe and are often difficult to treat. These syndromes include infantile spasms, early infantile epileptic encephalopathy with suppression bursts (Ohtahara syndrome), malignant migrating partial epilepsy of infancy, early myoclonic epileptic encephalopathy, and severe myoclonic epilepsy of infancy (Dravet syndrome).

Our current research efforts are focused on children with early onset epilepsies with no know genetic cause. Our goal is to identify genetic alterations (known as “mutations”) that cause epilepsy with the hopes of improving diagnosis and treatment for these. It is also possible that understanding the genetic basis of early-onset epilepsies may in some instances make it possible to prevent it from occurring in the future.



Who Can Participate in Epilepsy Genetics Research?

If your child has been diagnosed with an early onset epilepsy syndrome, your family may be eligible to participate in Boston Children Hospital’s Genetics of Epilepsy and Related Neurological Disorders research protocol. Your family does not need to live in the Boston area to participate. Eligibility includes children with the following diagnoses:

• Epileptic encephalopathy
• Ohtahara syndrome
• Infantile spasms
• Dravet syndrome
• Malignant partial seizures of infancy (MMPEI)
• Early myoclonic epileptic encephalopathy (EMEE)
• Early infantile epileptic encephalopathy (EIEE)
• Any early onset epilepsy with no known genetic etiology



What Does Participation Involve?

Participation in this research study includes providing a blood sample (or another source of DNA, such as saliva). We also collect blood/DNA samples from both biological parents and in some instances siblings. In addition, we will conduct a detailed interview (either by phone or in person) to collect family and medical history. This interview will last approximately 1 hour. We will also review your child’s medical records, including EEG data and any imaging studies (such as MRI) performed in the past, in order to get a complete overview of your child’s medical history.

Is there a cost to participate?
No, there is no cost to participate in this research study and we do not provide any financial compensation. You will be reimbursed for any expenses related to the study.


Will I Learn the Results of the Research?

Through our research, we hope to identify gene mutations that help explain early onset epilepsy. In order to do this, we need DNA samples from many children with the same or similar diagnosis, as well as from their immediate family members. Rather than looking at specific genes already known to play a role in epilepsy, we are performing exome sequencing, a technique which enables us to examine all 20,000 genes in the entire human genome. You will have the opportunity to decide if you would like to be notified of research results when they become available. If we identify genetic information that is relevant to your child’s epilepsy diagnosis, we will notify you and you will have the opportunity to learn the results. It is important to note, however, that research takes considerable time and it may be months or even years before we have any information that could be clinically useful to individuals or families.


If I Have More Questions, or Would Like to Participate, Who Can I Contact?

If you would like to participate in this study, or if you have questions about research, you can reach the Epilepsy Genetics Program by email at:

EpilepsyGenetics@Childrens.Harvard.edu

Or, please call 617-355-5254

We look forward to hearing from you!

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