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

A high familial predisposition for epilepsy in patients with childhood absence epilepsy (CAE) suggests underlying genetic causes for the disease. It has been shown that not only is epilepsy seen more often in families of patients with CAE, but also some of the healthy family members (i.e. without overt seizures) show a generalized spike and wave pattern in the electroencephalogram (EEG). This epileptiform EEG pattern is age-dependent and earlier studies indicated that nearly 50 percent of siblings age 4-14 years exhibit this pattern. These family findings suggest that there is a single or major gene effect in CAE, thus making it ideal for genetic linkage studies.

This study will identify the gene(s) involved in the cause of CAE by identifying families of carefully diagnosed CAE patients and obtaining family and medical histories from all family members. Researchers will perform EEG on clinically unaffected family members below age 20 to identify those with epileptiform (spike-and-wave) EEG, and a genome scan to identify genetic loci that confer susceptibility to epilepsy in those families.

Absence seizures or staring spells are brief blank stares that begin and end abruptly. In this research study scientists hope to find out if different forms of epilepsy and certain EEG patterns are inherited, and if so, how they are inherited. Results from this study may enable scientists to understand the cause of absence seizures and, perhaps, other types of seizures as well.

For the study, participants will be interviewed to obtain family history, and be required to have blood and EEG tests. Although the study is based at Columbia Presbyterian Medical Center, blood and EEG tests can be arranged at locations elsewhere at no cost to participants or their insurance. Researchers will also travel to subjects' home.

Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Criteria

Inclusion criteria:

• Families of patients with classical (typical) Childhood Absence Epilepsy.
• Families should be multiplex or multigenerational, i.e. with more than one member affected with idiopathic generalized epilepsy or large Simplex Families, i.e families with at least 3 children (including the proband) but no other affected family member.

Exclusion criteria:

• Adoption.