title: High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.
abstract: Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive central nervous system disorder characterized by childhood onset epilepsy and subsequent mental retardation. The locus for EPMR has been mapped to human chromosome 8p23. We recently reported the construction of a YAC contig across the 4 centimorgan minimum genetic region that harbors the disease locus. We now report further delineation of the critical region to <700 kb. Our mapping strategy relied on the identification of nine novel microsatellite markers and the construction of a complete BAC contig across the critical region. Several partial gene sequences have been identified from the region and are being analyzed as candidate genes for EPMR.
authors.affiliation: Department of Psychiatry, Columbia Genome Center, College of Physicians and Surgeons at Columbia University and New York State Psychiatric Institute, New York 10032, USA.
authors.forename: S
authors.initials: S
authors.lastname: Ranta
authors.forename: A E
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: M
authors.initials: M
authors.lastname: de Fatima Bonaldo
authors.forename: J A
authors.initials: JA
authors.lastname: Knowles
authors.forename: A
authors.initials: A
authors.lastname: Hirvasniemi
authors.forename: B
authors.initials: B
authors.lastname: Ross
authors.forename: P J
authors.initials: PJ
authors.lastname: de Jong
authors.forename: M B
authors.initials: MB
authors.lastname: Soares
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
authors.forename: T C
authors.initials: TC
authors.lastname: Gilliam
mesh_terms: D001483:Base Sequence; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D018076:DNA, Complementary; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D005091:Exons; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010375:Pedigree; D017422:Sequence Analysis, DNA; D016324:Sequence Tagged Sites
chemical_list: D018076:DNA, Complementary