Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

Proceedings of the National Academy of Sciences of the United States of America

Volumn 88, Issue 9, 1991, Pages 3696-3699

  Lehesjoki, Anna Elina ^a,b   Koskiniemi, Marjaleena ^a   Sistonen, Pertti ^c   Miao, Jinmin ^a,b   Hästbacka, Johanna ^a,b   Norio, Reijo ^d   De La Chapelle, Albert ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^c FINNISH RED CROSS BLOOD SERVICE   (Finland)

^d Finnish Pop/Fam Welf Federation ^*  (Finland)

Author keywords

Linkage analysis; Restriction fragment length polymorphism; Unverricht Lundborg disease

Indexed keywords

ARTICLE; CHROMOSOME 21Q; CLINICAL ARTICLE; GENE MAPPING; HUMAN; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; EPILEPSIES, MYOCLONIC; HUMAN; LINKAGE (GENETICS); POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0025909848     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.88.9.3696     Document Type: Article

References (40)

1. Scheuer, M. L. & Pedley, T. A. (1990) N. Engl. J. Med. 323, 1468-1474.
2. Commission on Classification and Terminology of the International League Against Epilepsy (1989) Epilepsia 30, 389-399.
3. Berkovic, S. F., Andermann, F., Carpenter, S. & Wolfe, L. S. (1986) N. Engl. J. Med. 315, 296-305.
4. Marseille Consensus Group (1990) Ann. Neurol. 28, 113-116.
5. Gardiner, R. M. (1990) J. Med. Genet. 27, 537-544.
6. Leppert, M., Anderson, V. E., Quattelbaum, T., Stauffer, D., O'Connell, P., Nakamura, Y., Lalouel, J.-M. & White, R. (1989) Nature (London) 337, 647-648.
7. McKusick, V. A. (1990) Mendelian Inheritance in Man (Johns Hopkins Press, Baltimore, MD), Vol. 9, pp. 1364-1365.
8. Unverricht, H. (1891) Die Myoclonie (Franz Deuticke, Vienna), pp. 1-128.
9. Unverricht, H. (1895) Dtsch. Z. Nervenheilk. 7, 32-67.
10. Lundborg, H. (1903) Die Progressive Myoclonus-Epilepsie (Unverrichts Myoklonie) (Almquist & Wiksell, Uppsala), PP. 1-207.
11. Koskiniemi, M., Donner, M., Majuri, H., Haltia, M. & Norio, R. (1974) Acta Neurol. Scand. 50, 307-332.
12. Koskiniemi, M., Toivakka, E. & Donner, M. (1974) Acta Neurol. Scand. 50, 333-359.
13. Koskiniemi, M. (1974) Epilepsia 15, 537-545.
14. Norio, R. & Koskiniemi, M. (1979) Clin. Genet. 15, 382-398.
15. Koskiniemi, M. (1990) in Paediatric Epilepsy, eds. Sillanpää. M., Johannessen, S. I., Blennow, G. & Dam, M. (Wrightson, Hampshire, U.K.), pp. 137-144.
16. Koskiniemi, M. & Palo, J. (1978) J. Neurol. Sci. 39, 235-239.
17. Koskiniemi, M., Hyyppä, M., Sainio, K., Salmi, T., Sarna, S. & Uotila, L. (1980) Epilepsia 21, 351-357.
18. Laakso, J. T., Koskiniemi, M.-L., Wahlroos, Ö. & Härkönen, M. (1983) Scand. J. Clin. Lab. Invest. 43, 463-472.
19. Leino, E., MacDonald, E., Airaksinen, M. M. & Riekkinen, P. J. (1980) Acta Neurol. Scand. 62, 41-45.
20. Haltia, M., Kristensson, K. & Sourander, P. (1969) Acta Neurol. Scand. 45, 63-77.
21. Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T. P., Bowden, D. W., Smith, D. R., Lander, E. S., Botstein, D., Akots, G., Rising, M. B., Parker, C., Powers, J. A., Watt, D. E., Kauffman, E. R., Bricker, A., Phipps, P., Muller-Kahle, H., Fulton, T. R., Ng, S., Schumm, J. W., Braman, J. C., Knowlton, R. G., Barker, D. F., Crooks, S. M., Lincoln, S. E., Daly, M. J. & Abrahamson, J. (1987) Cell 51, 319-337.
22. Donis-Keller, H. & Helms, C. (1990) in Genetic Maps, ed. O'Brien, S. J. (Cold Spring Harbor Lab., Cold Spring Harbor, NY). 5th Ed., pp. 5.158-5.182.
23. Moisan, J.-P., Mattei, M.-G. & Mandel, J.-L. (1988) Hum. Genet. 79, 168-171.
24. Rouyer, F., de la Chapelle, A., Andersson, M. & Weissenbach, J. (1990) EMBO J. 9, 505-514.
25. Rouyer, F., de la Chapelle, A. & Weissenbach, J. (1990) Nucleic Acids Res. 18, 1663.
26. Schumm, J. W., Knowlton, R. G., Braman, J. C., Barker, D. F., Botstein, D., Akots, G., Brown, V. A., Gravius, T. C., Helms, C., Hsiao, K., Rediker, K., Thurston, J. G. & Donis-Keller, H. (1988) Am. J. Hum. Genet. 42, 143-159.
27. Lathrop, G. M., Lalouel, J. M., Julier, C. & Ott, J. (1984) Proc. Natl. Acad. Sci. USA 81, 3443-3446.
28. Hästbacka, J., Kaitila, I., Sistonen, P. & de la Chapelle, A. (1990) Proc. Natl. Acad. Sci. USA 87, 8056-8059.
29. Warren, A. C., Slaugenhaupt, S. A., Lewis, J. G., Chakravarti, A. & Antonarakis, S. E. (1989) Genomics 4, 579-591.
30. Lundborg, H. B. (1912) Z. Ges. Neurol. Psychiat. 9, 353-358.
31. Harriman, D. G. F. & Millar, J. H. D. (1955) Brain 78, 326-349.
32. Lander, E. S. & Botstein, D. (1987) Cold Spring Harbor Symp. Quant. Biol. 51, 49-62.
33. Eldridge, R., Iivanainen, M., Stern, R., Koerber, T. & Wilder, B. J. (1983) Lancet ii, 838-842.
34. Wallace, S. J. (1990) Lancet ii, 486-488.
35. Greenberg, D. A., Delgado-Escueta, A. V., Widelitz, H., Sparkes, R. S., Treiman, L., Maldonado, H. M., Park, M. S. & Terasaki, P. I. (1988) Am. J. Med. Genet. 31, 185-192.
36. Greenberg, D. A., Delgado-Escueta, A. V., Widelitz, H., Abad, P. & Park, M. S. (1989) Cytogenet. Cell Genet. 51, 1008 (abstr.).
37. Korenberg, J. R., Kawashima, H., Pulst, S.-M., Ikeuchi, T., Ogasawara, N., Yamamoto, K., Schonberg, S. A., West, R., Allen, L., Magenis, E., Ikawa, K., Taniguchi, N. & Epstein, C. J. (1990) Am. J. Hum. Genet. 47, 236-246.
38. Patterson, D., Gardiner, K., Kao, F.-T.,Tanzi, R., Watkins, P. & Gusella, J. F. (1988) Proc. Natl. Acad. Sci. USA 85, 8266-8270.
39. St. George-Hyslop, P. H., Tanzi, R. E., Polinsky, R. J., Haines, J. L., Nee, L., Watkins, P. C., Myers, R. H., Feldman, R. G., Pollen, D., Drachman, D., Growdon, J., Bruni, A., Foncin, J.-F., Salmon, D., Frommelt, P., Amaducci, L., Sorbi, S., Piacentini, S., Stewart, G. D., Hobbs, W. J., Conneally, P. M. & Gusella, J. F. (1987) Science 235, 885-890.
40. Allere, R., O'Hanlon, D., Price, R., Neilson, K., Willard, H. F., Cox, D. R., Marks, A. & Dunn, R. J. (1988) Science 239, 1311-1313.