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Localization of a gene for partial epilepsy to chromosome 10q

Abstract

There is strong evidence for a genetic contribution to epilepsy, but it is commonly assumed that this genetic contribution is limited to ‘generalized’ epilepsies, and that most forms of ‘partial’ epilepsy are nongenetic. In a linkage analysis of a single family containing 11 affected individuals, we obtained strong evidence for localization of a gene for partial epilepsy. This susceptibility gene maps to chromosome 10q, with a maximum two–point lod score for D10S192 of 3.99 at θ=0.0. All affected individuals share a single haplotype for seven tightly linked contiguous markers; the maximum lod score for this haplotype is 4.83 at θ=0.0. Key recombinants place the susceptibility locus within a 10 centimorgan interval.

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References

  1. Hauser, W.A., Annegers, J.F. & Kurland, L.T. Prevalence of epilepsy in Rochester, Minnesota, 1940–1980. Epilepsia 31, 429–445 (1991).

    Article  Google Scholar 

  2. Hauser, W.A., Annegers, J.F. & Kurland, L.T. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935–1984. Epilepsia 34, 453–468 (1993).

    Article  CAS  PubMed  Google Scholar 

  3. Leppert, M. et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 337, 647–648 (1989).

    Article  CAS  PubMed  Google Scholar 

  4. Lewis, T.B., Leach, R.J., Ward, K., O'Connell, P. & Ryan, S.G. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am. J. hum. Genet. 53, 670–675 (1993).

    CAS  PubMed  PubMed Central  Google Scholar 

  5. Steinlein, O. et al. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) to human chromosome 20q13.2–q13.3. Genomics 22, 493–495 (1994).

    Article  CAS  PubMed  Google Scholar 

  6. Lehesjoki, A.-E. et al. Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc. natn. Acad. Sci. U.S.A. 88, 3696–3699 (1991).

    Article  CAS  Google Scholar 

  7. Greenberg, D.A. et al. Juvenile myoclonic epilepsy may be linked to the BF and HLA loci on human chromosome 6. Am. J. Med. Genet. 31, 185–192 (1988).

    Article  CAS  PubMed  Google Scholar 

  8. Weissbecker, K.A., Durner, M., Janz, D., Scaramelli, A., Sparkes, R.S. & Spence, M.A. Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. Am. J. Med. Genet. 38, 32–86 (1991).

    Article  CAS  PubMed  Google Scholar 

  9. Durner, M., Sander, T., Greenberg, D.A., Johnson, K., Beck-Mannagetta, G. & Janz, D. Localization of idiopathic generalized epilepsy on chromosome 6p in families ascertained through juvenile myoclonic epilepsy patients. Neurology 41, 1651–1655 (1991).

    Article  CAS  PubMed  Google Scholar 

  10. Whitehouse, W.P. et al. Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. Am. J. hum. Genet. 53, 652–662 (1993).

    CAS  PubMed  PubMed Central  Google Scholar 

  11. Commission on Classification and Terminololgy of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 22, 489–501 (1981).

  12. Commission on Classification and Terminology of the International League Against Epilepsy. A revised proposal for the classification of epilepsy and epileptic syndromes. Epilepsia 30, 268–278 (1989).

  13. Ottman, R. Genetics of the partial epilepsies: a review. Epilepsia 30, 107–111 (1989).

    Article  CAS  PubMed  Google Scholar 

  14. Ottman, R., Annegers, J.F., Hauser, W.A. & Kurland, L.T. Seizure risk in offspring of parents with generalized vs. partial epilepsy. Epilepsia 30, 157–161 (1989).

    Article  CAS  PubMed  Google Scholar 

  15. Heijbel, J., Blom, S. & Rasmuson, M. Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study. Epilepsia 16, 285–93 (1975).

    Article  CAS  PubMed  Google Scholar 

  16. Scheffer, I.E. et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 343, 515–517 (1994).

    Article  CAS  PubMed  Google Scholar 

  17. Ottman, R. & Susser, M. Data collection strategies in genetic epidemiology: the Epilepsy Family Study of Columbia University. J. din. Epidemiol. 45, 721–727 (1992).

    Article  CAS  Google Scholar 

  18. Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. hum. Genet. 36, 460–465 (1984).

    CAS  PubMed  PubMed Central  Google Scholar 

  19. Lathrop, G.M. & Lalouel, J.M. Efficient computations in multilocus linkage analysis. Am. J. hum. Genet. 42, 498–505 (1988).

    CAS  PubMed  PubMed Central  Google Scholar 

  20. Cottingham, R.W., Jr Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. hum. Genet. 53, 252–263 (1993).

    PubMed  PubMed Central  Google Scholar 

  21. Ottman, R. & Sherman, S. Genetic analysis of epilepsy in families ascertained from voluntary organizations [abstract]. Epilepsia 31, 611 (1990).

    Article  Google Scholar 

  22. Gyapay, G. et al. The 1993–94 Genethon human genetic linkage map. Nature Genet. 7, 246–339 (1994).

    Article  CAS  PubMed  Google Scholar 

  23. Ottman, R., Lee, J.H., Hauser, W.A. & Risch, N. Birth cohort and familial risk of epilepsy: the effect of diminished recall in studies of lifetime prevalence. Am. J. Epidemiol. (in the press).

  24. Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. hum. Genet. 44, 388–396 (1989).

    CAS  PubMed  PubMed Central  Google Scholar 

  25. Tautz, D. Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucl. Acids Res. 17, 6463–6471 (1989).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Ottman, R., Risch, N., Hauser, W. et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 10, 56–60 (1995). https://doi.org/10.1038/ng0595-56

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