Plain-English translation of NCT00041600 on ClinicalTrials.gov ↗ · Source last updated · Translation generated · How we translate trials
Researchers at Boston Children's Hospital are trying to understand which genes cause epilepsy and disorders affecting brain development and thinking. By comparing DNA from people with these conditions to DNA from the general population, scientists hope to discover the genetic causes of epilepsy, brain malformations, and cognitive disorders like intellectual disability and autism.
Epilepsy and brain development disorders cost families and the healthcare system enormous amounts of money, and many cases have genetic roots that are not yet understood. This study exists to identify the specific genes responsible for these conditions so that doctors can better diagnose, treat, and potentially prevent them in the future.
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Your participation would involve providing a DNA sample, which is typically collected through a simple blood draw or saliva sample. Researchers may also ask you or your family members questions about your medical history and brain-related diagnoses. There is no long-term commitment or ongoing medication involved — this is primarily a one-time genetic sample collection to help scientists understand the genes involved in these conditions.
AI-generated summary from trial data · Jun 4, 2026 · Not medical advice
United States
Harvard University Faculty of Medicine
Collaborators
National Institute of Neurological Disorders and Stroke (NINDS), Howard Hughes Medical Institute
Enrollment target
~3,500 participants
Started
April 1996
Primary completion
June 2030
Last updated on clinicaltrials.gov in September 2023.
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Central contact
Jennifer Neil, MS
Harvard Institutes of Medicine
Tell us you're interested and we'll help connect you with the research team. We'll walk you through what to expect first — no email needed to get started.