Genetics of Rolandic Epilepsy
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Purpose
The purpose of this study is to find the genes that cause Rolandic epilepsy and its related traits.
| Condition |
|---|
|
Epilepsy |
| Study Type: | Observational |
| Study Design: | Observational Model: Case Control Time Perspective: Cross-Sectional |
| Official Title: | Genetics of Rolandic Epilepsy |
whole blood
| Estimated Enrollment: | 1000 |
| Study Start Date: | January 2005 |
| Estimated Study Completion Date: | December 2013 |
| Estimated Primary Completion Date: | December 2013 (Final data collection date for primary outcome measure) |
| Groups/Cohorts |
|---|
|
Group I: Cases
Children with rolandic epilepsy
|
|
Group II: Controls
Individuals group matched to cases for ethnicity, sex and area of residence but lacking a primary brain disorder.
|
Detailed Description:
Rolandic epilepsy (RE) is the most common type of childhood epilepsy—affecting more than 50,000 children in the United States—and has a complex genetic inheritance. The seizure prognosis is relatively benign, however, many children with RE also have problems with speech and language, reading, and motor coordination. Symptoms of the disorder overlap with more severe types of epilepsy.
The purpose of this study is to find the genes that influence RE and its related traits. Identifying genetic causes for the variants would improve diagnosis and allow for early intervention.
Researchers will enroll 1000 children with RE and 3000 controls for participation in the study. The scientists will request medical histories and (salivary) DNA samples from the participants. Participation can be completed by mail and telephone.
Results from this study should provide important information regarding diagnosis and prognosis of RE, may be useful in clinical management, and, eventually, may lead to a cure for this and other forms of epilepsy.
Eligibility| Ages Eligible for Study: | 3 Years and older |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Non-Probability Sample |
Community Sample
Inclusion:
- typical history of focal seizures
- EEG centrotemporal sharp waves
- age of onset 3-12 years
- no previous epilepsy type (febrile seizures OK)
- normal development
- normal neurological examination
- normal MRI/CT (if done)
Exclusion:
- only history of secondary generalized seizures
- atypical history/semiology
- history and EEG inconsistent
- abnormal EEG background
- very early (<3yrs) or late (>12yrs) onset
- global neurodevelopmental deficit
- deviant neurodevelopment
- structural imaging abnormality
Contacts and Locations| Contact: Deb Pal, MD, PhD | 212 342 1237 | dkp28@columbia.edu |
| United States, New York | |
| Mailman School of Public Health, Columbia University Medical Center, 722 West 168th St, 6th Floor | Recruiting |
| New York, New York, United States, 10032 | |
| Contact: Deb Pal, MD, PhD 212-342-1237 dkp28@columbia.edu | |
| Principal Investigator: | Deb K. Pal, MD, PhD | Associate Research Scientist, Mailman School of Public Health, Columbia University Medical Center |
More Information
Additional Information:
No publications provided
| Responsible Party: | Deb K Pal MD PHD, Columbia University |
| ClinicalTrials.gov Identifier: | NCT00282854 History of Changes |
| Other Study ID Numbers: | 4727, R01NS047530 |
| Study First Received: | January 26, 2006 |
| Last Updated: | December 5, 2011 |
| Health Authority: | United States: Federal Government |
Keywords provided by King's College London:
|
epilepsy Rolandic epilepsy |
Additional relevant MeSH terms:
|
Epilepsy Epilepsy, Rolandic Brain Diseases |
Central Nervous System Diseases Nervous System Diseases Epilepsies, Partial |
ClinicalTrials.gov processed this record on May 19, 2013