TY  - JOUR
A1  - Ranta, S
A1  - Lehesjoki, A E
A1  - Hirvasniemi, A
A1  - Weissenbach, J
A1  - Ross, B
A1  - Leal, S M
A1  - de la Chapelle, A
A1  - Gilliam, T C
T1  - Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.
Y1  - 1996/05/01 
JF  - Genome Research 
JO  - Genome Research 
SP  - 351 
EP  - 360 
DO  - 10.1101/gr.6.5.351 
VL  - 6 
IS  - 5 
UR  - http://genome.cshlp.org/content/6/5/351.abstract 
N2  - Progressive epilepsy with mental retardation (EPMR) is an autosomal recessive disorder discovered recently from an isolated region in Finland. The disorder is characterized by normal early development, generalized tonic-clonic seizures with onset at 5-10 years of age, and progressive mental retardation beginning 2-5 years after the onset of seizures. We recently mapped the EPMR locus to a 7-cM region on chromosome 8p between markers AFM185xb2 and D8S262. A recombination detected with a new microsatellite marker AFMa054td9 narrows the region to 4 cM. A yeast artificial chromosome (YAC) contig containing 22 YACs was constructed across the disease gene region. The YAC contig is characterized by a collection of 19 YAC-end sequence-tag sites together with seven microsatellite markers. The entire YAC contig spans a minimum of 3 Mb. Moreover, the distal end of the contig contains a subtelomeric YAC yRM2205 that anchors the contig to the telomere. Construction of a YAC contig across the disease gene region is an essential step toward the isolation of the EPMR gene. 
ER  -