The purpose of our study is to identify gene(s) involved in the cause of childhood absence
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
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
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.
Patients and their families:
- Clinical diagnosis of classical (typical) Childhood Absence Epilepsy
- Good seizure control
- Must be able to give saliva sample
- History of non-febrile seizures prior to the onset of typical absence seizures
- other neuropsychiatric or developmental disorders.