Genetics of Epilepsy and Related Disorders
Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Observational
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.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
Locations
United States
Massachusetts
Boston Children's Hospital
RECRUITING
Boston
Contact Information
Primary
Lacey Smith, MS, CGC
lacey.smith@childrens.harvard.edu
857-218-3239
Backup
D'Gama Lab
dgamalab@childrens.harvard.edu
Time Frame
Start Date: 2010-11
Estimated Completion Date: 2030-12
Participants
Target number of participants: 5000
Treatments
BCH Children's Rare Disease Cohort (CRDC)
Individuals with epilepsy, onset at any age. Must be followed clinically at Boston Children's Hospital. Research trio-based exome and/or whole genome with CLIA confirmation of diagnostic findings. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation.
Authors
Related Therapeutic Areas
Sponsors
Leads: Boston Children's Hospital