Epilepsy Research
Volume 23, Issue 3 , Pages 235-244 , April 1996

Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor α1 and γ2 subunit gene cluster on chromosome 5

  • Thomas Sander

      Affiliations

    • Corresponding Author InformationCorresponding author. Psychiatrische Klinik und Poliklinik, University Hospital Benjamin Franklin, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany. Tel.: 49 30 8445 8665; fax: 49 30 8445 8393.
    • Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany
    • Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    • ,
  • Thomas Hildmann

      Affiliations

    • Institute of Human Genetics, Humboldt University of Berlin, Heubner Weg 6, 14059 Berlin, Germany
    • ,
  • Dieter Janz

      Affiliations

    • Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    • ,
  • Thomas F. Wienker

      Affiliations

    • Genetic Epidemiology Group, Max-Delbrück-Centre, Robert-Rössle Str. 10, 13122 Berlin, Germany
    • ,
  • Amedeo Bianchi

      Affiliations

    • Genetic Collaborative Group of the Italian League Against Epilepsy, Department of Neurophysiology, University of Arezzo, Ospedale USL 23, Via della Fonte Veneziana 17, 52100 Arezzo, Italy
    • ,
  • Gerd Bauer

      Affiliations

    • Department of Neurology, University of Innsbruck, Anichstr. 35, 6020 Innsbruck, Austria
    • ,
  • Ulrike Sailer

      Affiliations

    • Department of Neurology, University of Innsbruck, Anichstr. 35, 6020 Innsbruck, Austria
    • ,
  • Alejandro Scaramelli

      Affiliations

    • Institute of Neurology, University Hospital, ‘Hospital de Clinicas’, Av. Italia S/N, CP 11600, Montevideo, Uruguay
    • ,
  • Heidemarie Neitzel

      Affiliations

    • Institute of Human Genetics, Humboldt University of Berlin, Heubner Weg 6, 14059 Berlin, Germany
    • ,
  • Bettina Schmitz

      Affiliations

    • Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany
    • Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    • ,
  • Mark E.S. Bailey

      Affiliations

    • Department of Anatomy, Charing Cross and Westminster Medical School, The Reynolds Building, St Dunstan's Road, London W6 8RP, UK
    • Present address: Laboratory of Genetics, Pontecorvo Building, Anderson College, University of Glasgow, 56 Dumbarton Road, Glasgow G11 6NU, United Kingdom.
    • ,
  • Gertrud Beck-Mannagetta

      Affiliations

    • Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    • ,
  • Keith J. Johnson

      Affiliations

    • Department of Anatomy, Charing Cross and Westminster Medical School, The Reynolds Building, St Dunstan's Road, London W6 8RP, UK
    • Present address: Laboratory of Genetics, Pontecorvo Building, Anderson College, University of Glasgow, 56 Dumbarton Road, Glasgow G11 6NU, United Kingdom.
    • ,
  • Mark G. Darlison

      Affiliations

    • Institute for Cell Biochemistry and Clinical Neurobiology, University Hospital Eppendorf, University of Hamburg, Martinistr. 52, 20246 Hamburg, Germany

Received 15 September 1995 ,Accepted 4 November 1995.

References 

  1. Baker E, Sutherland GR, Schofield PR. Localization of the glycine receptor α1 subunit gene (GLRA10 to chromosome 5q32 by FISH. Genomics. 1994;22:491–493
  2. Beck-Mannagetta G, Janz D. Syndrome related genetics in generalized epilepsy. Epilepsy Res. 1991;(Suppl. 4):105–111
  3. Berkovic SF, Andermann F, Andermann E, Gloor P. Concepts of absence epilepsies: Discrete syndromes or biological continuum?. Neurology. 1987;37:993–1000
  4. Blandfort M, Tsuboi T, Vogel F. Genetic counseling in the epilepsies. Hum. Genet. 1987;76:303–331
  5. Brooks-Kayal AR, Pritchett DB. Developmental changes in human γ-aminobutyric acidA receptor subunit composition. Ann. Neurol. 1993;34:687–693
  6. Buchhalter JR. Animal models of inherited epilepsy. Epilepsia. 1994;34(Suppl. 3):31–41
  7. Commission on Classification and Terminology of the International League Against Epilepsy . Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia. 1989;30:389–399
  8. Darlison MG, Albrecht BE. GABAA receptor subtypes: Which, where and why?. Sem. Neurosci. 1995;7:115–126
  9. Delgado-Escueta AV, Serratosa JM, Liu A, Weissbecker K, Medina MT, Gee M, et al. Progress in mapping human epilepsy genes. Epilepsia. 1994;35(Suppl. 1):29–40
  10. Durner M, Sander T, Greenberg DA, Johnson KJ, Beck-Mannagetta G, Janz D. Localization of idiopathic generalized epilepsies on chromosome 6p in families ascertained through juvenile myoclonic epilepsy patients. Neurology. 1991;41:1651–1655
  11. Frankel WN, Taylor BA, Noebels JL, Lutz CM. Genetic epilepsy model derived from common inbred mouse strains. Genetics. 1994;138:481–489
  12. Fritschy J-M, Paysan J, Enna A, Möhler H. Switch in the expression of rat GABAA receptor subtypes during postnatal development: An immunohistochemical study. J. Neurosci. 1994;14:5302–5324
  13. Goldin LR, Martinez MM, Gershon ES. Sampling strategies for linkage studies. Eur. Arch. Psychiatry Clin. Neurosci. 1991;240:182–187
  14. Greenberg DA, Durner M, Delgado-Escueta AV. Evidence for multiple gene loci in the expression of the common generalized epilepsies. Neurology. 1992;42(Suppl. 5):56–62
  15. Greger V, Knoll JHM, Woolf E, Glatt K, Tyndale RF, DeLorey TM, et al. The γ-aminobutyric acid receptor γ3 subunit gene (GABRG3) is tightly linked to the α5 subunit gene (GABRA5) on human chromosome 15q11–q13 and its transcribed in the same orientation. Genomics. 1995;26:258–264
  16. Hicks AA, Bailey MES, Riley BP, Kamphuis W, Siciliano MJ, Johnson KJ, et al. Further evidence for clustering of human GABAA receptor subunit genes: localization of the α6-subunit gene (GABRA6) to distal 5q by linkage analysis. Genomics. 1994;20:285–288
  17. Janz D, Beck-Mannagetta G, Sander T. Do idiopathic generalized epilepsies share a common susceptibility gene?. Neurology. 1992;42(Suppl. 5):48–55
  18. Janz D. Juvenile myoclonic epilepsy. Cleveland Clin. J. Med. 1989;56(Suppl. 1):23–33
  19. Johnson KJ, Sander T, Hicks AA, van Marle A, Janz D, Mullan MJ, et al. Confirmation of the localization of the human GABAA receptor α1-subunit gene (GABRA1) to distal 5q by linkage analysis. Genomics. 1992;14:745–748
  20. Lathrop GM, Lalouel JM. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet. 1984;36:460–465
  21. Leppert M, Anderson VE, Quattlebaum T, Stauffer D, O'Connell P, Nakamura Y, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature. 1989;337:647–648
  22. Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q. Am. J. Hum. Genet. 1993;53:670–675
  23. Loiseau P. Childhood absence epilepsy. In:  Roger J,  Dravet C,  Bureau M,  Dreifuss FE,  Perret A,  Wolf P editor. Epileptic Syndromes in Infancy, Childhood and Adolescence. second edn.. London: John Libbey; 1992;p. 135–150
  24. Macdonald RL, Olsen RW. GABAA receptor channels. Annu. Rev. Neurosci. 1994;17:569–602
  25. Marescaux C, Vergnes M, Depaulis A. Genetic absence epilepsy in rats from Strasbourg—A review. J. Neural Transm. 1991;35:37–69 (Suppl.)
  26. McLean PJ, Farb DH, Russek SJ. Mapping of the α4 subunit gene (GABRA4) to human chromosome 4 defines an α2-α4-β1-γ1 gene cluster: Further evidence that modern GABAA receptor gene clusters are derived from an ancestral cluster. Genomics. 1995;26:580–586
  27. Metrakos JD, Metrakos K. Genetics of convulsive disorders. II. Genetics and electroencephalographic studies in centrencephalic epilepsy. Neurology. 1961;11:414–483
  28. Miller SA, Dykes DD, Plesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215
  29. Moshe SL, Brown LL, Kubanova H, Veliskova H, Zukin RS, Sperber EF. Maturation and segregation of brain networks that modify seizures. Brain Res. 1994;665:141–146
  30. Ott J. Linkage analysis and family classification under heterogeneity. Ann. Hum. Genet. 1983;47:311–320
  31. Pedley T. The use and role of EEG in the genetic analysis of epilepsy. Epilepsy Res. 1991;(Suppl. 4):31–44
  32. Russek SJ, Farb DH. Mapping of the β2 subunit gene (GABRB2) to microdissected human chromosome 5q32–q35 defines a gene cluster for the most abundant GABAA receptor isoform. Genomics. 1994;23:528–533
  33. Sander T, Hildmann T, Janz D, Wienker TF, Neitzel H, Bianchi A, et al. The phenotypic spectrum related to the human epilepsy susceptibility gene ‘EJM1’. Ann. Neurol. 1995;38:210–218
  34. Shiang R, Ryan SG, Zhu YZ, Hahn AF, O'Connell P, Wasmuth JJ. Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. Nat. Genet. 1993;5:351–357
  35. Shinnar S, Moshe SL. Age specificity of seizure expression in genetic epilepsies. Epilepsy Res. 1991;(Suppl. 4):69–85
  36. Snodgrass SR. GABA and epilepsy: Their complex relationship and the evolution of our understanding. J. Child. Neurol. 1992;7:77–88
  37. Tsuboi T, Endo S. Incidence of seizures and EEG abnormalities among offspring of epilepsy pateints. Hum. Genet. 1977;36:173–189
  38. Vieland VJ, Hodge SE, Greenberg DA. Adequacy of single-locus approximations for linkage analyses of oligogenic traits. Genet. Epidemiol. 1992;9:45–59
  39. Warrington JA, Bailey SK, Armstrong E, Aprelikova O, Alitalo K, Dolganov GM, et al. A radiation hybrid map of 18 growth factor receptor, hormone receptor, or neurotransmitter receptor genes on the distal region of the long arm of chromosome 5. Genomics. 1992;13:803–808
  40. Wilcox AS, Warrington JA, Gardiner K, Berger R, Whiting P, Altherr MR, et al. Human chromosomal localization of genes encoding the γ1 and γ2 subunits of the γ-aminobutyric acid receptor indicates that members of this gene family are often clustered in the genome. In: second edn.. Proc. Natl. Acad. Sci. USA. 89:1992;p. 5857–5861
  41. Wisden W, Seeburg PH. GABAA receptor channels: From subunits to functional entities. Curr. Opin. Neurobiol. 1992;2:263–269
  42. Wolf P. Juvenile myoclonic epilepsy. In:  Roger J,  Dravet C,  Bureau M,  Dreifuss FE,  Perret A,  Wolf P editor. Epileptic Syndromes in Infancy, Childhood and Adolescence. second edn.. London: John Libbey; 1992;p. 313–327
  43. Wolf P. Juvenile absence epilepsy. In:  Roger J,  Dravet C,  Bureau M,  Dreifuss FE,  Perret A,  Wolf P editor. Epileptic Syndromes in Infancy, Childhood and Adolescence. second edn.. London: John Libbey; 1992;p. 307–312

PII: 0920-1211(95)00098-4

Epilepsy Research
Volume 23, Issue 3 , Pages 235-244 , April 1996

Article Tools