Genetics of Epilepsy and Related Disorders
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Exome and/or whole genome sequencing.
- Who it may be relevant to
- Registry conditions: Epilepsy, Epileptic Encephalopathy. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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
- Genetic Exome and/or whole genome sequencing
Primary outcome measures
- Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy. [Time frame: 10 years]
Eligibility 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Boston Children's Hospital — Boston
Identifiers
NCT: NCT01858285 · X10-04-0197