ArticleProceedings of the National Academy of Sciences of the United States of America1994
The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 82 citations in OpenAlex.
- Guanine nucleotide exchange factor OSG-1 confers functional aging via dysregulated Rho signaling in Caenorhabditis elegans neurons.Genetics · 2015Article
- Chromosome 8p as a potential hub for developmental neuropsychiatric disorders: implications for schizophrenia, autism and cancer.Molecular psychiatry · 2009Review
- ELMOD2 is a candidate gene for familial idiopathic pulmonary fibrosis.American journal of human genetics · 2006Article
- The genetic spectrum of human neuronal ceroid-lipofuscinoses.Brain pathology (Zurich, Switzerland) · 2004Review
- The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.Brain pathology (Zurich, Switzerland) · 2004Review
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease.Neuromolecular medicine · 2002Review
- The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.Journal of inherited metabolic disease · 1999Review
- Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity.American journal of human genetics · 1999Article
- Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results.American journal of human genetics · 1997Article
- Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.Genome research · 1996Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 generalized tonic-clonic seizures with onset at 5-10 years and progressive, severe mental retardation with onset 2-5 years after the first seizures. In this study the gene locus is assigned to the telomeric region of chromosome 8p by linkage. Analyses of recombinations place the locus in the 7-centimorgan interval between AFM185xb2 and D8S262 in which three markers, D8S504, D8S264, and AFM077yg5, show no recombinations with the phenotype. Haplotypes comprising alleles at the above five loci support the hypothesis of a single founding mutation for all affected chromosomes except the one belonging to the unrelated parent, who has a very different haplotype, suggesting another mutation or a very old ancestry of a single mutation. This study raises to three the number of heritable epilepsies whose gene loci have been mapped and provides a starting point for the cloning of the gene. It also suggests the possibility that the disease might not be limited to the northern Finnish population.
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