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Home > "S" Clinical Trials Conditions > Search for Genes Influencing Childhood Absence Epilepsy Study  Search for Genes Influencing Childhood Absence Epilepsy Study
Search for Genes Influencing Childhood Absence Epilepsy Study
For Condition: Epilepsy,Seizures,Childhood Absence Epilepsy
Status: Recruiting
Sponsor(s): National Institute of Neurological Disorders and Stroke (NINDS) ,
Synopsis: The purpose of our study is to identify gene(s) involved in the cause of childhood absence epilepsy (CAE).
Details: 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.
Eligibility:
Study Type: Observational, Screening
Minimum Age/Maximum Age: /
Genders: Both
Protocol Entry 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.
Total Enrollment: 100
Location and Contact Information:
Overall Study Official:
MartinaDurner, Principal Investigator, Columbia University, md2050@columbia.edu
Columbia University, Division of Statistical Genetics, 722 W 168 Street, 6th Floor *Recruiting*
New York City, New York, 10032
United States
Recruiting Ryan Cauley 877-223-5900
Additional Information:
Study ID Numbers: R01NS37466;
Study Start Date: December 1998
Record last reviewed: February 2004
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00041951
Other Epilepsy Studies:
1. Randomized Study of Albendazole in Patients with Epilepsy Due to Neurocysticercosis
2. Monitoring Patients with Uncontrolled Epilepsy
3. Double-blind, placebo-controlled trial of vitamin E as add-on therapy for children with epilepsy
4. Depression and Health Outcomes in Refractory Epilepsy
5. Study of Specimens Obtained during Epilepsy Surgery
Related Studies:
Other Epilepsy Clinical Trials
Other New York Clinical Trials
Other New York City Clinical Trials
Search for Genes Influencing Childhood Absence Epilepsy Study
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