Genetics of Epilepsy and Related Disorders
Purpose
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.
Conditions
- Epilepsy
- Epileptic Encephalopathy
- Ohtahara Syndrome
- Infantile Spasms
- Dravet Syndrome
- Early Myoclonic Epileptic Encephalopathy
- PCDH19-related Epilepsy and Related Conditions
- KCNQ2-Related Epileptic Encephalopathy
- Epilepsy of Infancy With Migrating Focal Seizures (Disorder)
Eligibility
- Eligible Ages
- All ages
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
Criteria
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
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Cross-Sectional
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| BCH Children's Rare Disease Cohort (CRDC) | 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. |
|
| Gene-STEPS (Shortening Time of Evaluation in Paediatric Epilepsy Services) | Collaborative effort of consortium including BCH, Great Ormond Street Hospital, Royal Children's Hospital Melbourne and Murdoch Children's Research Institute, and The Hospital for Sick Children. For BCH cohort, eligibility limited to individuals presenting clinically at BCH with seizure onset at less than 12 months of age. Must be enrolled within six weeks of first seizure-related presentation to BCH. Clinical trio-based rapid whole genome sequencing in a CLIA laboratory. Exclusions include: Simple febrile seizures, provoked seizures, genetic or acquired cause already identified, MRI findings consistent with specific genetic etiology. |
|
| Epilepsy Core | Individuals with epilepsy, onset at any age. Research trio-based exome and/or whole genome. Exclusions include presence of existing genetic diagnosis or known cause for epilepsy, presence of structural brain malformation. |
|
| Phenotyping Cohort | Individuals with diagnosed genetic epilepsies, including but not limited to PRRT2, SCN1A, SCN2A, SCN8A, PCDH19, SYNGAP1, DEPDC5, KCNQ2, CACNA1A. |
|
Recruiting Locations
Boston 4930956, Massachusetts 6254926 02115
More Details
- Status
- Recruiting
- Sponsor
- Boston Children's Hospital
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.