Genetics of Epilepsy and Related Disorders
Boston Children's Hospital
Summary
Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to epilepsy and related disorders. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.
Description
Many individuals with epilepsy experience seizures which respond well to treatment. Some types of epilepsy, however, are characterized by seizures which begin very early in childhood and are associated with severe intellectual and/or developmental disabilities. These conditions are often difficult to treat. The investigators' research effort is focused on identifying genetic changes (known as "DNA variants") that cause epilepsy. By doing so the investigators hope to improve diagnosis and treatment for this epilepsy. We have two specific aims: 1. Identifying genetic findings in patients with…
Eligibility
- Age range
- Not specified
- Sex
- All
- Healthy volunteers
- No
inclusion: diagnosis of epilepsy, patient at Boston Children's Hospital exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain, not seen at Boston Children's Hospital
Interventions
- GeneticExome and/or whole genome sequencing
Location
- Boston Children's HospitalBoston, Massachusetts