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Genetic Study of Familial Epilepsy

2014-08-27 03:57:31 | BioPortfolio

Summary

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.

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 Design

Primary Purpose: Screening

Conditions

Epilepsy

Location

Columbia University College of Physicians and Surgeons
New York
New York
United States
10032

Status

Completed

Source

National Center for Research Resources (NCRR)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:57:31-0400

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