Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p

Genome Research

Volumn 6, Issue 5, 1996, Pages 351-360

  Ranta, Susanna ^a,b   Lehesjoki, Anna Elina ^b   Hirvasniemi, Aune ^c   Weissenbach, Jean ^d   Ross, Barbara ^a   Leal, Suzanne M ^a,e   De La Chapelle, Albert ^b   Gilliam, T Conrad ^a  

^a New York State Psychiatric Institute ^*  (United States)

^b UNIVERSITY OF HELSINKI   (Finland)

^c KAINUU CENTRAL HOSPITAL   (Finland)

^d GÉNÉTHON   (France)

^e UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER; MICROSATELLITE DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8P; CLINICAL ARTICLE; DNA RECOMBINATION; DNA SEQUENCE; EPILEPSY; FEMALE; FINLAND; GENE ISOLATION; GENE LOCUS; GENE MAPPING; HUMAN; MALE; MENTAL DEFICIENCY; ONSET AGE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; TELOMERE; TONIC CLONIC SEIZURE; YEAST ARTIFICIAL CHROMOSOME;

EID: 0029931255     PISSN: 10549803     EISSN: None     Source Type: Journal    
DOI: 10.1101/gr.6.5.351     Document Type: Article

References (13)

1. Albertsen, H.M., H. Abderrahim, H.M. Cann, J. Dausset, D. Le Paslier, and D. Cohen. 1990. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. 87: 4256-4260.
2. Beck, C. et al. 1994. A nonsense mutation in the α4 subunit of the nicotinergic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBN1). Neurobiol. Dis. 1: 95-99.
3. Bonaldo, M.F., M.-.T Yu, P. Jelenc, S. Brown, L. Su, L. Lawton, L. Deaven, A. Efstratiadis, D. Warburton, and M.B. Soares. 1994. Selection of cDNAs using chromosome-specific genomic clones: Application to human chromosome 13. Hum. Mol. Genet. 3:1663-1673.
4. Chan, S.J., B. San Segundo, M.B. McCormick, and D.F. Steiner. 1986. Nucleotide and predicted amino acid sequences of cloned human and mouse preprocathepsin B cDNAs. Proc. Natl. Acad. Sci. 83: 7721-7725.
5. Cohen, D., I. Chumakov, and J. Weissenbach. 1993. A first-generation physical map of the human genome. Nature 336: 698-701.
6. Cottingham, R.W. Jr., R.M. Idury, and A.A. Schaffer. 1993. Faster sequential genetic linkage computations. Am. J. Hum. Genet. 53: 252-263.
7. Dausset, J., P. Ougen, H. Abderrahim, A. Billault, J.-L. Sambucy, D. Cohen, and D. Le Paslier. 1992. The CEPH YAC library. Behring Inst. Mitt. 91: 13-20.
8. Delgado-Escueta, A.V., D.M. Treiman, and G.O. Walsh. 1983. The treatable epilepsies. N. Engl. J. Med. 308: 1508-1514.
9. Delgado-Escueta, A.V., J.M. Serratosa, A.W. Liu, M.T. Medina, and R.S. Sparkes. 1994. A juvenile myoclonic epilepsy locus proximal to HLA: The value of studying a large family. Epilepsia 35: S7, 8.
10. Durner, M., T. Sander, D.A. Greenberg, K. Johnson, G. Beck-Mannagetta, and D. Janz. 1991. Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients. Neurology 41: 1651-1655.
11. Fong, D., M.M.-Y. Chan, W.-T. Hsieh, J.C. Menninger, and D.C. Ward. 1992. Confirmation of the human cathepsin B gene (CTSB) assignment to chromosome 8. Hum. Genet. 89: 10-12.
12. Gardiner, R.M. 1990. Genes and epilepsy. J. Med. Genet. 27: 537-544.
13. Weissbecker K.A., M. Durner, D. Janz, A. Scaramelli, R.S. Sparkes, and M.A. Spence. 1991. Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6. Am. J. Med. Genet. 38: 32-36.