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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 epilepsygenetics@childrens.harvard.edu.