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 call us at 617-919-6917 or contact our program coordinator directly at firstname.lastname@example.org.