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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.
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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Exome and/or whole genome sequencing | Genetic |
|
| Measure | Description | Time Frame |
|---|---|---|
| Identify new or existing pathogenic variants through exome and/or whole genome sequencing of individuals with epilepsy. | 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. | 10 years |
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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
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Individuals with epilepsy. Age and epilepsy type variable.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lacey Smith, MS, CGC | Contact | 857-218-3239 | lacey.smith@childrens.harvard.edu | |
| D'Gama Lab | Contact | dgamalab@childrens.harvard.edu |
| Name | Affiliation | Role |
|---|---|---|
| Alissa D'Gama, MD, PhD | Boston Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Boston Children's Hospital | Recruiting | Boston | Massachusetts | 02115 | United States |
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| Label | URL |
|---|---|
| Epilepsy Genetics Program at Boston Children's Hospital website | View source |
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| ID | Term |
|---|---|
| D004827 | Epilepsy |
| ID | Term |
|---|---|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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DNA from whole blood, saliva, or buccal swabs.