Article
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.
Proceedings of the National Academy of Sciences of the United States of America - 19 Jul 1994
Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki A E, de la Chapelle A
Abstract excerpt
A recently delineated childhood epilepsy has hitherto been observed only in a small geographic region in northern Finland, where, with the exception of one, both parents of all of the 11 sibships with affected individuals descend from one or two founding couples. The disease is characterized by g...
Topics
- Adult
- Age of Onset
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 8
- Epilepsy
- Genes, Recessive
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Humans
- Intellectual Disability
- Middle Aged