Evidence map›Paper›PMID 8747920›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society1995

New seizure frequency QTL and the complex genetics of epilepsy in EL mice.

W N Frankel, A Valenzuela, C M Lutz, E W Johnson, W F Dietrich, J M Coffin

Abstract read
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In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
5.2field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 78 citations in OpenAlex.

  1. Article
  2. Review
  3. Canine epilepsy genetics.Mammalian genome : official journal of the International Mammalian Genome Society · 2012
    Review
  4. Article
  5. Further studies on using multiple-cross mapping (MCM) to map quantitative trait loci.Mammalian genome : official journal of the International Mammalian Genome Society · 2006
    Article
  6. Genetic modifiers affecting severity of epilepsy caused by mutation of sodium channel Scn2a.Mammalian genome : official journal of the International Mammalian Genome Society · 2005
    Article
  7. Article
  8. Article
  9. Mapping loci for pentylenetetrazol-induced seizure susceptibility in mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1999
    Article
  10. Mapping quantitative trait loci for seizure response to a GABAA receptor inverse agonist in mice.The Journal of neuroscience : the official journal of the Society for Neuroscience · 1999
    Article
  11. Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase.Proceedings of the National Academy of Sciences of the United States of America · 1997
    Article
  12. Mapping murine loci for seizure response to kainic acid.Mammalian genome : official journal of the International Mammalian Genome Society · 1997
    Article
  13. Congenic strains reveal effects of the epilepsy quantitative trait locus, El2, separate from other El loci.Mammalian genome : official journal of the International Mammalian Genome Society · 1995
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 1 country.

W N FrankelJackson Laboratory, Bar Harbor, Maine 04609, USA.
A Valenzuela
C M Lutz
E W Johnson
W F Dietrich
J M Coffin
Jackson Laboratory · USWhitehead Institute for Biomedical Research · US

Funding

GENETIC DETERMINANTS OF EPILEPSY IN MURINE SYSTEMSR01NS031348 · NINDS · JACKSON LABORATORY · PI SANDS, TRISTAN T · 1993 to 2025
$11.5M
Genetic Determinants of Epilepsy in Murine SystemsR37NS031348 · NINDS · JACKSON LABORATORY · PI FRANKEL, WAYNE N. · 2014 to 2020
$5.8M
NINDS NIH HHS NS31348
6 · The paper itself

Abstract

EL/Suz (EL) mice experience recurrent seizures that are similar to common partial complex epilepsy in humans. In the mice, seizures occur naturally at 90-100 days of age, but can be induced in younger mice and analyzed as a semi-quantitative trait after gentle rhythmic stimulation. A previous genetic mapping study of EL backcrosses to the strains ABP/LeJ or DBA/2J showed two quantitative trait loci (QTL) with large effects on seizure frequency (El1, Chr 9; El2, Chr 2) and implied the existence of other QTL with lesser effects. To further the understanding of EL-derived seizure alleles, we examined intercross progeny of EL and the strains ABP/LeJ and DDY/Jcl, and also a backcross of (EL x DDY)F1 hybrids to DDY. A new large-effect seizure frequency QTL was found (El5, Chr 14), a more minor QTL confirmed (El3, Chr 10), and two additional QTL proposed (El4, Chr 9; El6, Chr 11). The serotonin receptor gene, Htr2a, maps near and is a candidate for El5, and linkages of other serotonin receptor genes to seizure frequency QTL are noted. In addition, a strong gender effect was revealed, and epistasis was found between Chr 9 and Chr 14 markers. Despite this progress, however, our results revealed a more complex determinism of epilepsy in EL mice than previously described. In particular, no single El locus or pair was essential for frequent seizures, as QTL with large effects, such as El5, El2, and El1, were highly dependent on genetic context. Our studies highlight the importance of gene interaction in some complex mammalian traits defined by natural variation.

Indexed as

AnimalsBase SequenceCrosses, GeneticEpilepsyFemaleHumansMaleMiceMolecular Sequence DataRecurrenceSeizures

Identifiers

PMID8747920
OpenAlexW2043495022

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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.