Genetics of Epilepsy and Related Disorders

Boston Children's Hospital

Status: Enrolling

Conditions: Epilepsy; Epileptic Encephalopathy

Treatments: Genetic: Exome and/or whole genome sequencing

Study type: Observational

Funder types: Other

Identifiers

NCT01858285

X10-04-0197

Details and patient eligibility

About

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.

Full 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.

Enrollment: 5,000 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

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

Trial design

5,000 participants in 1 patient group

BCH Children's Rare Disease Cohort (CRDC)

Description:

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.

Treatment:

Genetic: Exome and/or whole genome sequencing