@article{Ranta01051996,
author = {Ranta, S and Lehesjoki, A E and Hirvasniemi, A and Weissenbach, J and Ross, B and Leal, S M and de la Chapelle, A and Gilliam, T C}, 
title = {Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.},
volume = {6}, 
number = {5}, 
pages = {351-360}, 
year = {1996}, 
doi = {10.1101/gr.6.5.351}, 
abstract ={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.}, 
URL = {http://genome.cshlp.org/content/6/5/351.abstract}, 
eprint = {http://genome.cshlp.org/content/6/5/351.full.pdf+html}, 
journal = {Genome Research} 
}