Genetics of Epilepsy and Related Disorders Study
This is an observational study at Boston Children's Hospital looking into the genetic causes of epilepsy and related conditions. Researchers are using exome and/or whole genome sequencing (a test that looks at your DNA) to identify genetic changes that might contribute to epilepsy. The goal is to better understand why epilepsy affects people differently and to improve diagnosis and treatment. You may be able to join if you have an epilepsy diagnosis and are a patient at Boston Children's Hospital. You cannot join if you already have a known genetic cause for your epilepsy or a structural problem in your brain. The study aims to identify new or existing genetic changes over a 10-year period. The current recruitment status is unclear.
- Study design
- This is an observational study with a planned enrollment of 5000 participants. It is not specified if it is randomized or blinded.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- The primary goal is measured at 10 years, suggesting a long-term follow-up.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Genetics of Epilepsy and Related Disorders
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Alissa D'Gama, MD, PhD · PRINCIPAL_INVESTIGATOR · Boston Children's Hospital
Who to contact
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What this trial measures
- Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy.10 years
Use exome and/or whole genome sequencing to identify genetic variants. Detailed clinical information will be collected via medical records and patient questionnaire, as well as biological parents' exome sequencing to classify variants per ACMG guidelines.