ArticleProceedings of the National Academy of Sciences of the United States of America1991
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06593951 (Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1), which is not on this map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Who cites it
29 citing papers in PubMed.
- Advancing neurogenetics in Africa: past achievements, current developments and shaping the future.Nature reviews. Neurology · 2025Review
- Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy.Genes · 2018Article
- Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects.Journal of neurology · 2010Review
- Lafora disease: epidemiology, pathophysiology and management.CNS drugs · 2010Review
- Review
- Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.Journal of neurology · 2005Article
- Molecular background of progressive myoclonus epilepsy.The EMBO journal · 2003Review
- The Finnish Disease Heritage III: the individual diseases.Human genetics · 2003Review
- Genetics of inherited human epilepsies.Dialogues in clinical neuroscience · 2001Article
- Genetics of childhood epilepsy.Archives of disease in childhood · 2000Review
- Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 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
- Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.American journal of human genetics · 1997Article
- Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results.American journal of human genetics · 1997Article
- Development of a novel rat mutant with spontaneous limbic-like seizures.The American journal of pathology · 1996Article
- Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.American journal of human genetics · 1996Article
- Random-breakage mapping method applied to human DNA sequences.Nucleic acids research · 1996Article
- Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p.Genome research · 1996Article
- Genetic analysis of kifafa, a complex familial seizure disorder.American journal of human genetics · 1995Article
- Localization of a gene for partial epilepsy to chromosome 10q.Nature genetics · 1995Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Progressive myoclonus epilepsy of Univerricht-Lundborg type is a clinically defined entity among the progressive myoclonus epilepsies. It is an autosomal recessive disorder. The underlying biochemical defect is unknown. We used linkage analysis to localize the gene in 12 families with the aid of polymorphic DNA markers. Close linkage was detected with three markers on distal chromosome 21. The loci BCEI and D21S154 gave the highest positive logarithm-of-odds (lod) scores of 5.49 and 4.25, respectively, at zero recombination. The third locus, D21S112, gave a lod score of 6.91 at a recombination fraction of 0.034. There was no evidence of heterogeneity. Multipoint lod scores calculated against a fixed map of the three marker loci gave a maximum four-point lod score of 10.08 at a location of the disease gene at 6.0 centimorgans distal to locus BCEI and 0.8 centimorgan proximal to locus D21S154. As markers BCEI and D21S154 have previously been localized to 21q22.3 by physical methods, our findings place the EMP1 gene locus (for progressive myoclonus epilepsy of the Unverricht-Lundborg type) in chromosome 21 band q22.3. This finding provides an opportunity to test several other epilepsy phenotypes, particularly the so-called Ramsay Hunt syndrome, for linkage to the same locus. It also is a starting point toward isolating and characterizing the gene and its protein product.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.