Genetics of Epilepsy and Related Disorders

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01858285

Enrollment

5000

Registered

2013-05-21

Start date

2010-11-30

Completion date

2030-12-31

Last updated

2026-01-09

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Epilepsy, Epileptic Encephalopathy

Keywords

Epilepsy, Genetic

Brief 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.

Interventions

GENETICExome and/or whole genome sequencing

Study design

Observational model

COHORT

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Healthy volunteers

Inclusion 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

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

United States

Contacts

Primary ContactLacey Smith, MS, CGC

lacey.smith@childrens.harvard.edu857-218-3239

Backup ContactD'Gama Lab

dgamalab@childrens.harvard.edu

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026