Genetics of Epilepsy and Related Disorders

Last updated: November 19, 2024
Sponsor: Boston Children's Hospital
Overall Status: Active - Recruiting

Phase

N/A

Condition

Epilepsy

Infantile Spasms

Seizure Disorders (Pediatric)

Treatment

Exome and/or whole genome sequencing

Clinical Study ID

NCT01858285
X10-04-0197
  • All Genders

Study 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 Criteria

Inclusion

For Gene-STEPS:

inclusion: seizure onset at less than 12 months of age, must be enrolled within 6 weeks of first seizure-related presentation to BCH exclusion: simple febrile seizures, provoked seizures, genetic or acquired cause already identified, MRI findings consistent with specific genetic etiology

For BCH CRDC:

inclusion: diagnosis of epilepsy, patient at BCH exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain

For Core cohort:

inclusion: diagnosis of epilepsy exclusion: existing genetic diagnosis or known cause for epilepsy, structural malformation of the brain

For Phenotyping cohort:

inclusion: diagnosis of a genetic epilepsy exclusion: no genetic diagnosis or diagnosis of other genetic condition that does not include epilepsy phenotype

Study Design

Total Participants: 5000
Treatment Group(s): 1
Primary Treatment: Exome and/or whole genome sequencing
Phase:
Study Start date:
November 01, 2010
Estimated Completion Date:
December 31, 2030

Study 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.

Connect with a study center

  • Boston Children's Hospital

    Boston, Massachusetts 02115
    United States

    Active - Recruiting

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