Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study

Study Overview
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Brief Summary
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The purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE).

Detailed Description
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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. Comparing patients with CAE to healthy individuals without epilepsy and 2. Investigating whole families with many members affected with epilepsy). Participation in this study requires an interview regarding medical and family history and saliva (spit) collection from all available family members of families with many epilepsy cases. For those families without a history of epilepsy, parents and children are asked to provide a small amount of saliva only. Healthy volunteers without epilepsy or a family history of seizures are asked to 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, all study materials can be sent to your home at no cost to participants or their insurance. For the collection of saliva, special containers are provided and they can be shipped back to Mount Sinai in the pre-paid envelope provided. Study materials can be completed at your convenience. 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.

Official Title
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Search for Genes Influencing Childhood Absence Epilepsy Study

Conditions
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Childhood Absence Epilepsy, Epilepsy, Seizures

Participation Criteria
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Eligibility Criteria
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Patients and their families: Inclusion Criteria: Clinical diagnosis of classical (typical) Childhood Absence Epilepsy Good seizure control Must be able to give saliva sample Exclusion Criteria: History of non-febrile seizures prior to the onset of typical absence seizures other neuropsychiatric or developmental disorders.

Ages Eligible for Study
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Minimum Age: 3 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| CAE participants<br>Both parents and a child with CAE of families without other affected members (trios) or whole families with many members affected with epilepsy. | |
| Controls<br>Healthy individuals without epilepsy and no family history of epilepsy. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Saliva sample |  | at baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Childhood Absence Epilepsy, CAE, Petit Mal, Epilepsy, Seizures, Genes, Inheritance, Genetics, Genetic Linkage