Genetic Study of Familial Epilepsy

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00006059
Recruitment Status : Completed
First Posted : July 6, 2000
Last Update Posted : June 24, 2005
Columbia University
Information provided by:
National Center for Research Resources (NCRR)

Brief Summary:


I. Determine the chromosomal regions that contain genes that raise the risk of epilepsy in families by performing genetic linkage analysis of idiopathic/cryptogenic epilepsy.

Condition or disease

Detailed Description:

PROTOCOL OUTLINE: Family histories are obtained, then the patients undergo an interview, a neurological examination, and EEG. Blood specimens are also collected.

Linkage analysis is performed on specimens and analysis of shared marker alleles are used to identify genomic regions likely or unlikely to contain the epilepsy genes. Genotypes in family members are determined at microsatellite markers throughout the genome. Markers tested include chromosomes linked to human epilepsy syndromes (6p, 8p, 8q, 20q, 21q) and chromosome 3 (similar to mouse "epilepsy" genes). Linkage to markers on chromosome 10q are also tested.

Patients do not receive the results of the testing and the results do not influence the type and duration of any treatment.

Study Type : Observational
Enrollment : 898 participants
Primary Purpose: Screening
Study Start Date : January 1997

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Epilepsy

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No


--Disease Characteristics--

Male or female members of families with at least 1 close relative pair (sibling, half sibling, avuncular, grandparent-grandchild, or first cousin) affected with idiopathic/cryptogenic epilepsy that developed before age 25

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00006059

United States, New York
Columbia University College of Physicians and Surgeons
New York, New York, United States, 10032
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Columbia University
Study Chair: Ruth Ottman Columbia University Identifier: NCT00006059     History of Changes
Other Study ID Numbers: NCRR-M01RR00645-2635
First Posted: July 6, 2000    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2003

Keywords provided by National Center for Research Resources (NCRR):
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases