Literaturverzeichnis

1. Appleton R, Beirne M, Acomb B (2000) Photosensitivity in juvenile myoclonic epilepsy. Seizure 9 (2): 108-11

2. Becker T, Knapp M (2004) A powerful strategy to account for multiple testing in the context of haplotype analysis. Am J Hum Genet 75 (4): 561-70

3. Blasi P, Boyl PP, Ledda M, et al. (2002) Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms . Mol Genet Metab 76 (4): 348-62

4. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63: 861-69

5. Buck KJ, Metten P, Belknap JK, Crabbe JC (1997) Quantitative trait loci involved in genetic predisposition to acute alcohol withdrawal in mice. J Neurosci 17 (10): 3946-55

6. Buono RJ, Lohoff FW, Sander T, et al. (2004) Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility. Epilepsy Res 58 (2-3): 175-83

7. Cortez MA, Wu Y, Gibson KM, Snead OC, 3rd (2004) Absence seizures in succinic semialdehyde dehydrogenase deficient mice: a model of juvenile absence epilepsy. Pharmacol Biochem Behav 79 (3): 547-53

8. Dibbens LM, Feng HJ, Richards MC, et al. (2004) GABRD encoding a protein for extra- or peri -synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13 (13): 1315-9

9. Doose H, Waltz S (1993) Photosensitivity-genetics and clinical significance. Neuropediatrics 24 (5): 249-55

10. Dudbridge F (2003) Pedigree disequilibrium tests for multilocus haplotypes . Genet Epidemiol 25 (2): 115-21

11. Ferraro TN, Golden GT, Smith GG, et al. (1999) Mapping loci for pentylenetetrazol -induced seizure susceptibility in mice. J Neurosci 19 (16): 6733-9

12. Ferraro TN, Golden GT, Smith GG, et al. (2004) Fine mapping of a seizure susceptibility locus on mouse Chromosome 1: nomination of Kcnj10 as a causative gene. Mamm Genome 15 (4): 239-51

13. Gibson KM, Jakobs C, Pearl PL, Snead OC (2005) Murine succinate semialdehyde dehydrogenase (SSADH) deficiency, a heritable disorder of GABA metabolism with epileptic phenotype. IUBMB Life 57 (9): 639-44

14. Glazier AM, Nadeau JH, Aitman TJ (2002) Finding genes that underlie complex traits. Science 298 (5602): 2345-9

15. Greenberg DA, Durner M, Keddache M, et al. (2000) Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy. Am. J. Hum. Genet. 66 (2): 508-16.

16. Greenberg DA, Cayanis E, Strug L, et al. (2005) Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 76 (1): 139-46

17. Guerrini R, Genton P (2004) Epileptic syndroms and visually induced seizures. Epilepsia 45 Suppl 1: 14-18

18. Gupta M, Polinsky M, Senephansiri H, et al. (2004) Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency. Neurobiol Dis 16 (3) : 556-62

19. Hirschhorn JN, Daly MJ (2005) Genome-wide association studies for common diseases and complex traits. Nat Rev Genet 6 (2): 95-108

20. Commission on Classification and Terminology of the International League Against Epilepsy (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30: 389-99

21. Kasteleijn-Nolst Trenite D, Binnie CD, Harding GF, Wilkins A (1999) Photic stimulation: standardization of screening methods. Epilepsia 40 Suppl 4: 75-79

22. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58 (6): 1347-63

23. Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Genet. 11 (3): 241-47

24. Lenzen KP, Heils A, Lorenz S, et al. (2005b) Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy. Epilepsy Res 63 (2-3): 113-8

25. Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T (2005c) Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy. Epilepsia 46 (10): 1637-41

26. Lenzen KP, Heils A, Lorenz S, Hempelmann A, Sander T (2005a) Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy. Epilepsy Res 65 (1-2): 53-7

27. Lorenz S, Heils A, Taylor KP, et al. (2006a) Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity. Neurosci Lett, in press

28. Lorenz S, Taylor KP, Gehrmann A, et al. (2006b) Association of photoparoxysmal response with BRD2 polymorphisms. Neurosci Lett, in press

29. Macdonald RL, Gallagher MJ, Feng HJ, Kang J (2004) GABA(A) receptor epilepsy mutations. Biochem Pharmacol 68 (8): 1497-506

30. Marchini J, Donnelly P, Cardon LR (2005) Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet 37 (4): 413-7

31. Meencke HJ, Veith G (1999) The relevance of slight migrational disturbances ( microdysgenesis ) to the etiology of the epilepsies. Adv Neurol 79: 123-31

32. Pal DK, Evgrafov OV, Tabares P, et al. (2003) BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 73 (2): 261-70

33. Parra J, Kalitzin SN, Lopes da Silva FH (2005) Photosensitivity and visually induced seizures. Curr Opin Neurol 18 (2): 155-9

34. Pinto D, Westland B, de Haan GJ, et al. (2005) Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13. Hum Mol Genet 14 (1): 171-8

35. Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 74 (12): 5463-67

36. SAS (1988) SAS/STAT User's Guide, Release 6.03. Cary, NC

37. Shang L, Lucchese CJ, Haider S, Tucker SJ (2005) Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility. Brain Res Mol Brain Res 139 (1): 178-83

38. Steinlein OK (2004) Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci 5 (5): 400-8

39. Stephani U, Tauer U, Koeleman B, et al. (2004) Genetics of Photosensitivity ( Photoparoxysmal Response): A Review. Epilepsia 45 Suppl 1: 19-23

40. Strauch K (2003) Parametric linkage analysis with automatic optimization of the disease model parameters. Am J Hum Genet 73 ( suppl 1):A2624

41. Tauer U, Lorenz S, Lenzen KP, et al. (2005) Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy. Ann Neurol 57 (6): 866-73

42.Taylor KP, Heils A, Lorenz S, et al. (2006) Exploration of thegeneticarchitecture of idiopathicgeneralizedepilepsies.Epilepsia,submitted

43. Thorisson GA, Smith AV, Krishnan L, Stein LD (2005) The International HapMap Project Web site. Genome Res 15 (11): 1592-3

44. Turnbull J, Lohi H, Kearney JA, et al. (2005) Sacred disease secrets revealed: the genetics of human epilepsy. Hum Mol Genet 14 Spec No. 2: 2491-500

45. Waltz S, Christen HJ, Doose H (1992) The different patterns of the photoparoxysmal response--a genetic study. Electroencephalogr Clin Neurophysiol 83 (2): 138-45

46. Waltz S, Stephani U (2000) Inheritance of photosensitivity. Neuropediatrics 31 (2): 82-5

47. Woermann FG, Free SL, Koepp MJ, Sisodiya SM, Duncan JS (1999) Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel -based analysis of MRI. Brain 122 (Pt 11): 2101-08


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