Genetic Study of Familial Epilepsy

National Center for Research Resources (NCRR)

Status: Completed

Conditions: Epilepsy

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00006059

CPMC-IRB-4465

NCRR-M01RR00645-2635

Details and patient eligibility

About

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.

Full 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.

Sex: All

Volunteers: No Healthy Volunteers

Inclusion and exclusion 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