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Sponsors and Collaborators: |
Mount Sinai School of Medicine National Institute of Neurological Disorders and Stroke (NINDS) |
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Information provided by: | National Institute of Neurological Disorders and Stroke (NINDS) |
ClinicalTrials.gov Identifier: | NCT00041951 |
The purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE).
Condition |
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Childhood Absence Epilepsy Epilepsy Seizures |
Study Type: | Observational |
Study Design: | Case Control, Prospective |
Official Title: | Search for Genes Influencing Childhood Absence Epilepsy Study |
whole blood, saliva
Estimated Enrollment: | 1000 |
Study Start Date: | December 1998 |
Estimated Study Completion Date: | March 2010 |
Groups/Cohorts |
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1
whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios)
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2
healthy individuals without epilepsy
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A high familial predisposition for epilepsy in patients with childhood absence epilepsy (CAE), also called Petit mal epilepsy, suggests underlying genetic causes contributing to the disease. Several areas harboring potential absence epilepsy genes have been identified in the genome.
This study will further narrow down those areas and identify gene(s) involved in the cause of CAE by taking several approaches: 1. Investigating whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios) and 2. comparing patients with CAE to healthy individuals without epilepsy.
Participation in this study requires an interview regarding medical and family history and blood drawing or saliva collection from all available family members of families with many epilepsy cases. Parents and children with absence from families without a family history of seizures are asked to provide a small amount of saliva (spit) only. Healthy volunteers without epilepsy or a family history of seizures are asked fill out an anonymous questionnaire and provide a small amount of saliva as well.
Although the study is based at Mount Sinai School of Medicine in New York, blood tests can be arranged at locations elsewhere at no cost to participants or their insurance. Researchers will also travel to subject's home. For the collection of saliva, special containers are provided and can be shipped by mail.
Results from this study may enable scientists to understand the cause of absence seizures and, perhaps, other types of seizures as well and with this laying the foundation for better diagnosis and treatment of epilepsy patients in the future.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Whole families with many members affected with epilepsy or both parents and a child with CAE of families without other affected members (trios) and healthy individuals without epilepsy
Patients with classical (typical) Childhood Absence Epilepsy and their families.
Contact: Sandra Wrigley | 877-223-5900 | sandra.wrigley@mssm.edu |
United States, New York | |
Department of Psychiatry, Mount Sinai School of Medicine, Aron Hall, Suite 1B Right, 50 E. 98th Street | Recruiting |
New York, New York, United States, 10029 | |
Contact: Sandra Wrigley 877-223-5900 sandra.wrigley@mssm.edu | |
Principal Investigator: Martina Durner, M.D. |
Principal Investigator: | Martina Durner, M.D. | Mount Sinai School of Medicine, martina.durner@mssm.edu |
Responsible Party: | Mount Sinai School of Medicine ( Martina Durner, MD, Associate Professor of Psychiatry ) |
Study ID Numbers: | R01NS37466 |
Study First Received: | July 19, 2002 |
Last Updated: | October 15, 2008 |
ClinicalTrials.gov Identifier: | NCT00041951 |
Health Authority: | United States: Federal Government |
childhood absence epilepsy CAE epilepsy |
seizures epileptiform EEG pattern genetic linkage |
Signs and Symptoms Epilepsy Epilepsy, Absence Seizures Neurologic Manifestations |
Central Nervous System Diseases Epilepsy juvenile absence Epilepsy, Generalized Brain Diseases |
Nervous System Diseases |