The Boston Children's Hospital Epilepsy Genetics Program was founded in 2011 with the aim of helping children and families with known or suspected genetic epilepsy syndromes.
Our mission is threefold:
- providing expert clinical consultation, genetic evaluation, and genetic counseling services
- conducting groundbreaking scientific research at the local, regional, and national levels
- furthering education and outreach initiatives and advocating for ongoing quality improvement in the field
What is the goal of epilepsy genetics research?
Many children with epilepsy experience seizures that 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 known 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 about one 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 The Genetics of Epilepsy and Related Disorders study, or if you have questions about research, you can reach the Epilepsy Genetics Program by email at NeurogeneticsProgram@childrens.harvard.edu or by calling 617-355-5254
We look forward to hearing from you!
What is PCDH19-related epilepsy?
PCDH19-related epilepsy is a rare genetic type of epilepsy characterized by difficult-to-treat seizures as well as developmental and behavioral issues. It is caused by DNA sequence changes (“mutations”) in the PCDH19 gene and typically affects females only. Males who have mutations in the PCDH19 gene are often spared from these features. Currently, little is known about PCDH19-related epilepsy, and there are no targeted treatments available.
What are the goals of the registry?
A registry gathers and keeps information about people with a certain condition to support and encourage research into that condition. The purpose of the PCDH19-Related Epilepsy Registry is to maintain a database of information from individuals with PCDH19-related epilepsy and their family members that can be accessed for future research to gain a better understanding of PCDH19-related epilepsy and ultimately develop more effective treatment options. For example:
- Researchers may use the information for natural history studies to better define the range of medical and developmental features associated with PCDH19-related epilepsy. This may help healthcare providers provide more complete and accurate information for individuals and their families at the time of diagnosis and throughout their lives.
- Researchers may contact participants for blood or other biological samples to help develop treatments specific to PCDH19-related epilepsy and begin clinical trials for new or existing medications.
- Participants may learn more quickly about clinical trials when they become available.
Who can participate in the registry?
Any individual with a reported PCDH19 gene mutation or variant is eligible to participate. This includes individuals affected by PCDH19-related epilepsy and any family member who has been tested and found to carry the PCDH19 gene mutation or variant (regardless of whether or not they have any symptoms).
What does participation involve?
Participation in this study involves completing a medical and family history questionnaire at the time of enrollment, as well as additional questionnaires regarding any updates to the medical and family history at designated time intervals. We will also ask permission to obtain a copy of the participant’s medical record. We may also contact the participant’s family in the future if the participant is eligible to contribute to other research studies that aim to advance the knowledge of PCDH19-related epilepsy.
Is there a cost to participate in the PCDH19-related epilepsy registry?
There is no cost to participate in this study, and there will be no financial compensation for your/your child’s participation in this study.
If I have more questions or would like to participate, who can I contact?
If you would like more information on, or are interested in enrolling in the PCDH19-Related Epilepsy Registry, you may contact Lacey Smith, MS, CGC, at PCDH19registry@childrens.harvard.edu or 857-218-3239
