Genetic Study of Familial Epilepsy

This study has been completed.
Columbia University
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: July 5, 2000
Last updated: June 23, 2005
Last verified: December 2003


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.


Study Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment: 898
Study Start Date: January 1997
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.


Genders Eligible for Study:   Both
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

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Please refer to this study by its identifier: 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
  More Information

No publications provided Identifier: NCT00006059     History of Changes
Other Study ID Numbers: NCRR-M01RR00645-2635, CPMC-IRB-4465
Study First Received: July 5, 2000
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

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 processed this record on November 30, 2015