Genetic Study of Familial Epilepsy

This study has been completed.

First Received: July 5, 2000 Last Updated: June 23, 2005 History of Changes

Sponsors and Collaborators:	National Center for Research Resources (NCRR) Columbia University
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00006059

Purpose

OBJECTIVES:

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
Epilepsy

Genetics Home Reference related topics: pyridoxal 5'-phosphate-dependent epilepsy pyridoxine-dependent epilepsy

MedlinePlus related topics: Epilepsy

U.S. FDA Resources

Study Type:	Observational
Study Design:	Screening

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.

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

PROTOCOL ENTRY CRITERIA:

--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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00006059

Locations

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

Investigators

Study Chair:

Ruth Ottman

Columbia University

More Information

No publications provided

Study ID Numbers:	NCRR-M01RR00645-2635, CPMC-IRB-4465
Study First Received:	July 5, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00006059 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):

epilepsy
neurologic and psychiatric disorders
rare disease
seizures

Study placed in the following topic categories:

Mental Disorders
Epilepsy
Seizures

Rare Diseases
Central Nervous System Diseases
Brain Diseases

Additional relevant MeSH terms:

Epilepsy
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases

ClinicalTrials.gov processed this record on May 06, 2009