Article
Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.
Genome research - 1 May 1996
Ranta S, Lehesjoki A E, Hirvasniemi A, Weissenbach J, Ross B, Leal S M, de la Chapelle A, Gilliam T C
Abstract excerpt
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 retar...
Topics
- Chromosome Mapping
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 8
- DNA Primers
- Epilepsy
- Female
- Genetic Linkage
- Genetic Markers
- Genomic Library
- Genotype
- Humans
- Intellectual Disability
- Male
- Microsatellite Repeats
- Pedigree