NCT01858285

Genetics of Epilepsy and Related Disorders

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 5,000 (estimated)
• Sponsor: Boston Children's Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Detailed 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 epilepsy and related disorders. 2. Correlating genetic findings with epilepsy phenotypes.

Conditions

• Epilepsy
• Epileptic Encephalopathy

Interventions

Type	Name	Description
GENETIC	Exome and/or whole genome sequencing

Timeline

• Start date: 2010-11-01
• Primary completion: 2030-12-01
• Completion: 2030-12-01
• First posted: 2013-05-21
• Last updated: 2026-01-09

Locations

1 site across 1 country: United States