Programs & Services | Overview
The Boston Children's Hospital Epilepsy Genetics Program sees a wide range of patients, including:
- children and families with known or suspected genetic epilepsy syndromes
- children with genetic variants of uncertain significance that require parental testing and/or genetic counseling
- parents or family members of children with genetic test results of unknown significance
- children with certain genetic variants that require further evaluation
Program Director Ann Poduri, MD, MPH, and our team’s physicians perform pediatric epilepsy genetic consultations, while Co-Director Beth Rosen Sheidley, MS, CGC, and our licensed genetic counselors take detailed, syndrome-specific family histories and provide genetic counseling.
Consultations last from one to two hours and will include the following:
- review of your child’s previous medical records
- review of your child’s medical and treatment history
- review of your child’s family history
- discussion of potential treatments for epilepsy
- genetic counseling, including discussion of inheritance of epilepsy, implications for other family members, and the potential benefits and limitations of genetic testing
- discussion of emotional aspects of caring for a child with special needs and/or sources of information and support
- discussion of potential enrollment into research studies, if applicable
If you have any questions about scheduling an appointment in the Epilepsy Genetics Program clinic, please contact our Program Coordinator Frederick Burki at Frederick.Burki@childrens.harvard.edu or call 617-919-6917.