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
Services we provide
The experts within the Epilepsy Genetics Clinic provide:
- Careful evaluation or re-evaluation of individuals with epilepsy with a presumed or confirmed genetic cause
- State-of-the-art diagnostic evaluation, including genetic testing and genetic counseling
- Comprehensive management of seizures personalized to the individual
- Mutual partnership between families and clinicians to optimize long-term seizure and neurodevelopmental outcomes
- Identification of resources for information and support for families
- Research into causes of epilepsy and precision medicine treatment trials
Epilepsy genetics research
In addition to the services we provide in clinic, we believe in translational research that leads directly to improved outcomes for individuals living with epilepsy and their families. Many of our team members are both healthcare providers and researchers leading innovative basic science and clinical research programs that will lead to precision medicine treatments for individuals with genetic epilepsy syndromes.
