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In addition to providing excellent and comprehensive multidisciplinary care to our patients, the Boston Children's Hospital Epilepsy Genetics Program is also actively involved research.

Our main research initiatives are:

  • The Genetics of Epilepsy and Related Neurological Disorders, a long-term project to understand the genetics of epilepsy
    • Currently focusing on malignant migrating partial epilepsy of infancy and other severe early-onset epilepsies, including infantile spasms, Ohtahara syndrome, and Dravet syndrome.
  • PCDH19-Related Epilepsy Registry, in collaboration with the PCDH19 Alliance, Boston Children's Hospital has created a registry for individuals with PCDH19-Related Epilepsy.
    • Will be used to help researchers gain a better understanding of PCDH19-Related Epilepsy and ultimately develop more effective treatment options. Additionally, participants in this registry may learn more quickly about clinical trials when they become available.
  • Developing zebrafish models of epilepsy to study novel genes in epilepsy but also as a high-throughput model to be used for the screening of potential targeted therapeutics for genetic epilepsies. One of the chief goals of the program is to bring genetic discovery from the lab back to patients in the form of clinical trials.

If you are interested in learning more about our research, please contact us at epilepsygenetics@childrens.harvard.edu or 617-355-5254.

We are indebted to the many individuals and partnerships both within and outside of Boston Children’s Hospital who have contributed to the Epilepsy Genetics Program’s research efforts. We want to give a special “thank you” to the following foundations and organizations:

  • Aaron’s Ohtahara Foundation
  • Boston Children's Hospital Translational Research Program
  • Child Neurology Foundation
  • Citizens United for Research in Epilepsy (CURE)
  • The Cute Syndrome Foundation
  • Dravet Syndrome Foundation
  • National Institutes of Health/National Institute of Neurological Disorders and Stroke
  • PCDH19 Alliance
  • The many other private donors who have contributed to our research

Finally, we would like to thank all of the children and families with whom we have worked and who have enrolled in our research projects. We would not exist if not for your generous contributions to this important work.