Clinical trial NCT00041951: Search for Genes Influencing Childhood Absence Epilepsy (CAE) Study
Official title: Search for Genes Influencing Childhood Absence Epilepsy Study
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Childhood Absence Epilepsy
Epilepsy
Seizures
Keywords: Childhood Absence Epilepsy
CAE
Petit Mal
Epilepsy
Seizures
Genes
Inheritance
Genetics
Genetic Linkage
Lead sponsor: Icahn School of Medicine at Mount Sinai
Sponsor class: OTHER
Collaborators: name: National Institute of Neurological Disorders and Stroke (NINDS)
First posted: 2002-07-22
Enrollment: 185
Sex: ALL
Minimum age (years): 3
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: 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

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

Detailed description: 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.

Eligibility criteria: 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.

Primary outcomes:
measure: Saliva sample
timeFrame: at baseline
Secondary outcomes:
Other outcomes:
Locations:
city: New York
country: United States
facility: Icahn School of Medicine at Mount Sinai
state: New York
Study officials:
affiliation: Icahn School of Medicine at Mount Sinai
name: Martina Durner, M.D.
role: PRINCIPAL_INVESTIGATOR
References: