HIGH-RESOLUTION MAPPING AND TRANSCRIPT IDENTIFICATION AT THE PROGRESSIVE EPILEPSY WITH MENTAL-RETARDATION LOCUS ON CHROMOSOME 8P

Progressive epilepsy with mental retardation [EPMR] is an autosomal re cessive central nervous system disorder characterized by childhood ons et epilepsy and subsequent mental retardation. The locus for EPMR has been mapped to human chromosome 8p23. We recently reported the constru ction of a YAC contig across the 4 centimorgan minimum genetic region that harbors the disease locus. We now report further delineation of t he critical region to <700 kb. Our mapping strategy relied on the iden tification of nine novel microsatellite markers and the construction o f a complete BAC contig across the critical region. Several partial ge ne sequences have been identified from the region and are being analyz ed as candidate genes for EPMR.