Susceptibility genes for complex epilepsy

Human Molecular Genetics

Volumn 14, Issue SUPPL. 2, 2005, Pages

  Mulley, John C ^a,b   Scheffer, Ingrid E ^c   Harkin, Louise A ^a,b   Berkovic, Samuel F ^c,d   Dibbens, Leanne M ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; CALCIUM CHANNEL T TYPE; ION CHANNEL;

ARTICLE; EPILEPSY; EPILEPTOGENESIS; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE STRUCTURE; GENETIC MODEL; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HERITABILITY; HUMAN; MULTIFACTORIAL INHERITANCE; POLYMORPHIC LOCUS; PRIORITY JOURNAL; STRUCTURE ANALYSIS;

ALLELES; CALCIUM CHANNELS, T-TYPE; EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ION CHANNELS; MODELS, GENETIC; MULTIFACTORIAL INHERITANCE; RECEPTORS, GABA-A; VARIATION (GENETICS);

EID: 27744551010     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddi355     Document Type: Article

References (54)

1. Annegers, J.F. (1996) The epidemiology of epilepsy. In Elaine Wylie, (ed). The Treatment of Epilepsy: Principles and Practice. Williams and Wilkins, Baltimore, MD.
2. Ottman, R., Lee, J.H., Risch, N., Hauser, W.A. and Susser, M. (1996) Clinical indicators of genetic susceptibility to epilepsy. Epilepsia, 37, 353-361.
3. Berkovic, S.F., Howell, R.A., Hay, D.A. and Hopper, J.L. (1998) Epilepsies in twins: Genetics of the major epilepsy syndromes. Ann. Neurol., 43, 435-445.
4. Greenberg, D.A., Delgado-Escueta, A.V., Widelitz, H., Sparkes, R.S., Treim Maldonado, H.M., Parks, M.S. and Terasaki, P.I. (1988) Juvenile myoclonic epilepsy (JME) may be linked to the BF a loci on human chromosome 6. Am. J. Med. Genet., 31, 185-192.
5. Zara, F., Bianchi, A., Avanzini, G., Di Donato, S., Castellotti, B., Patel, P.I. and Pandolfo, M. (1995) Mapping of genes predisposing to idiopathic generalized epilepsy. Hum. Mol. Genet., 4, 1201-1207.
6. Elmslie, F.V., Rees, M., Williamson, M.P., Kerr, M., Kjeldsen, M.J., Pang, K.A., Sundqvist, A., Friis, M.L., Chadwick, D., Richens, A. et al. (1997) Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum. Mol. Genet., 6, 1329-1334.
7. Durner, M., Zhou, G., Fu, D., Abreu, P., Shinnar, S., Resor, S.R., Moshe, S.L., Rosenbaum, D., Cohen, J., Harden, C. et al. (1999) Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8 and genetic heterogeneity. Am. J. Hum. Genet., 64, 1411-1419.
8. Sander, T., Schulz, H., Saar, K., Gennaro, E., Concetta Riggio, M., Bianchi, A., Zara, F., Luna, D., Bulteau, C., Kaminska, A. et al. (2000) Genome search for susceptibility loci of common idiopathic generalised epilepsies. Hum. Mol. Genet., 9, 1465-1472.
9. Durner, M., Keddache, M.A., Tomasini, L., Shinnar, S., Resor, S.R., Cohen, J., Harden, C., Moshe, S.L., Rosenbaum, D., Kang, H. et al. (2001) Genome scan of idiopathic generalized epilepsy: Evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann. Neurol., 49, 328-335.
10. Pal, D.K., Evgrafov, O.V., Tabares, P., Zhang F., Durner, M. and Greenberg, D.A. (2003) BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am. J. Hum. Genet., 73, 261-270.
11. Greenberg, D.A., Cayanis, E., Strug, L., Marathe, S., Durner, D., Pal, D.K., Alvin, G.B., Klotz, I., Dicker, E., Shinnar, S. et al. (2005) Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am. J. Hum Genet., 76, 139-146.
12. Pinto, D., Westland, B., de Haan, G-J., Rudolf, G., Martins da Silva, B., Hirsch, E., Lindhout, D., Kasteleijn-Nolst Trenite, D.G.A. and Koeleman, B.P.C. (2004) Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: Evidence for linkage on chromosomes 7q32 and 16p13. Hum. Mol. Genet., 14, 171-178.
13. Audenaert, D., Claes, L., Claeys, K.G., Deprez, L., Van Dyck, T., Goosens, D., Del-Favero, J., Van Paesschen, W., Van Broeckhoven, C. and De Jonghe, P. (2005) A novel susceptibility locus at 2p24 for generalized epilepsy with febrile seizures plus. J. Med. Genet. [Epub ahead of print].
14. Tan, N.C., Mulley, J.C. and Berkovic, S.F. (2004) Genetic association studies in epilepsy: 'the truth is out there'. Epilepsia, 45, 1429-1442.
15. Altmüller, J., Palmer, L.J., Fischer, G., Scherb, H. and Wjst, M. (2001) Genomewide scans of complex human diseases: True linkage is hard to find. Am. J. Hum. Genet., 69, 936-950.
16. +-channel β1 subunit gene SCN1B. Nat. Genet., 19, 366-370.
17. Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.F., Baulac, M., Brice, A., Bruzzone, R. and LeGuern, E. (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene. Nat. Genet., 28, 46-48.
18. A receptor (2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet., 28, 49-52.
19. Bertrand, D., Picard, F., Le Hellard, S., Weiland, S., Favre, I., Phillips, H., Bertrand, S., Berkovic, S.F., Malafosse, A. and Mulley, J. (2002) How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia, 43, 112-122.
20. Castaldo, P., del Giudice, E.M., Coppola, G., Pascotto, A., Annunziato, L. and Taglialatela, M. (2002) Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. J. Neurosci., 22, RC199.
21. Cossette, P., Liu, L., Brisebois, K., Dong, H., Lortie, A., Vanasse, M., Saint-Hilaire, J.M., Carmant, L., Verner, A., Lu, W.Y. et al. (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet., 31, 184-189.
22. Lossin, C., Wang, D.W., Rhodes, T.H., Vanoye, C.G. and George Jr, A.L. (2002) Molecular basis of an inherited epilepsy. Neuron, 34, 877-884.
23. Haug, K., Warnstedt, M., Alekov, A.K., Sander, T., Ramirez, A., Poser, B., Maljevic, S., Hebeisen, S., Kubisch, C., Rebstock, J. et al. (2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat. Genet., 33, 527-532.
24. Lander, E.S. (1996) The new genomics: Global views of biology. Science, 274, 536-539.
25. Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Shaw, N., Lane, C.R., Lim, E.P. and Kalyanaraman, N. (1999) Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nat. Genet., 22, 231-238.
26. Chakravarti, A. (1999) Population genetics-making sense out of sequence. Nat. Genet., 21, 56-60.
27. Reich, D.E. and Lander, E.S. (2001) On the allelic spectrum of human disease. Trends Genet., 17, 502-510.
28. Weiss, K.M. and Clark, A.G. (2002) Linkage disequilibrium and the mapping of complex human traits. Trends Genet., 18, 19-24.
29. Lohmueller, K.E., Pearce, C.L., Pike, M., Lander, E.S. and Hirschhorn, J.N. (2003) Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease. Nat. Genet., 33, 177-182.
30. Zondervan, K.T. and Cardon, L.R. (2004) The complex interplay among factors that influence allelic association. Nat. Rev. Genet., 5, 89-100.
31. Hirschhorn, J.N. and Daly, M.J. (2005) Genome-wide association studies for common diseases and complex traits. Nat. Rev. Genet., 6, 95-108.
32. Pritchard, J.K. (2001) Are rare variants responsible for susceptibility to complex diseases? Am. J. Hum. Genet., 69, 124-137.
33. Pritchard, J.K. and Cox, N.J. (2002) The allelic architecture of human disease genes: Common disease-common variant... or not? Hum. Mol. Genet., 11, 2417-2423.
34. Fay, J.C., Wyckoff, G.J. and Wu, C.I. (2001) Positive and negative selection on the human genome. Genetics, 158, 1227-1234.
35. Chen, Y., Lu, J., Pan, H., Zhang, Y., Wu, H., Xu, K., Liu, X., Jiang, Y., Bao, X., Yao, Z. et al. (2003) Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann. Neurol., 54, 239-243.
36. Heron, S.E., Phillips, H.A., Mulley, J.C., Mazarib, A., Neufeld, M.Y., Berkovic, S.F. and Scheffer, I.E. (2004) Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann. Neurol., 55, 595-596.
37. v3.2 T-type calcium channel associated with childhood absence epilepsy. J. Biol. Chem., 279, 9681-9684.
38. v3.2 channel mutations linked to idiopathic generalized epilepsy. Ann. Neurol., 57, 745-749.
39. Vitko, I., Chen, Y., Arias, J.M., Shen, Y., Wu, X-R. and Perez-Reyes, E. (2005) Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J. Neurosci., 25: 4844-4855.
40. A receptors is a susceptibility locus for generalized epilepsies. Hum. Mol. Genet., 13, 1315-1319.
41. A receptors, submitted.
42. Lenzen, K.P., Heils, A., Lorenz, S., Hempelmann, A. and Sander, T. (2005) Association analysis of the Arg220His variation of the human gene encoding the GABA δ subunit with idiopathic generalized epilepsy. Epilepsy Res., 65, 53-57.
43. Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H.A., Sutherland, G.R., Scheffer, I.E. and Berkovic, S.F. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet., 11, 201-203.
44. Scheffer, I.E. and Berkovic, S.F. (2003) The genetics of human epilepsy. Trends Pharmacol. Sci., 24, 428-433.
45. Nardone, J., Lee, D.U., Ansel, K.M. and Rao, A. (2004) Bioinformatics for the 'bench biologist': How to find regulatory regions in genomic DNA. Nat. Immunol., 5, 768-774.
46. Carter, N.P. (2004) As normal as normal can be? Nat. Genet., 36, 931-932.
47. Fredman, D., White, S.J., Potter, S., Eichler, E.E., Den Dunnan, J.T. and Brook, A.J. (2004) Complex SNP-related sequence variation in segmental genome duplications. Nat. Genet., 36, 861-866.
48. Iafrate, A.J., Feuk, L., Rivera, M.N., Listewnik, M.L., Donahoe, P.K., Qi, Y., Scherer, S.W. and Lee, C. (2004) Detection of large-scale variation in the human genome. Nat. Genet., 36, 949-951.
49. Harrington, E.D., Boue, S., Valcarcel, J., Reich, J.G. and Bork, P. (2004) Estimating rates of alternative splicing in mammals and invertebrates. Nat. Genet., 36, 915-917.
50. Dennis, C. (2003) Altered states. Nature, 421, 686-688.
51. Ionnidis, J.P.A., Ntzani, E.E. and Trikalinos, T.A. (2004) 'Racial' differences in genetic effects for complex diseases. Nat. Genet., 36, 1312-1318.
52. Mulley, J.C., Scheffer, I.E., Petrou, S. and Berkovic, S.F. (2003) Channelopathies as a genetic cause of epilepsy. Curr. Opin. Neurol., 16, 171-176.
53. George Jr, A.L. (2004) Inherited channelopathies associated with epilepsy. Epilepsy Curr., 4, 65-70.
54. Gourfinkel-An, I., Baulac, S., Nabbout, R., Ruberg, M., Baulac, M., Brice, A. and LeGuern, E. (2004) Monogenic idiopathic epilepsies. Lancet Neurol., 3, 209-218.