A polygenic heterogeneity model for common epilepsies with complex genetics

Genes, Brain and Behavior

Volumn 6, Issue 7, 2007, Pages 593-597

  Dibbens, L M ^a,b   Heron, S E ^a,b   Mulley, J C ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

Complex genetics; Epilepsy

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; CALCIUM CHANNEL;

EPILEPSY; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; IDIOPATHIC DISEASE; MULTIFACTORIAL INHERITANCE; NERVE CELL EXCITABILITY; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEIZURE; SYNAPTIC INHIBITION;

EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MODELS, GENETIC; VARIATION (GENETICS);

EID: 34748873272     PISSN: 16011848     EISSN: 1601183X     Source Type: Journal    
DOI: 10.1111/j.1601-183X.2007.00333.x     Document Type: Review

References (52)

1. Aridon, P., Marini, C., Di Resta, C., Brilli, E., De Fusco, M., Politi, F., Parrini, E., Manfredi, I., Pisano, T., Pruna, D., Curia, G., Cianchetti, C., Pasqualetti, M., Becchetti, A., Guerrini, R. Casari, G 2006) Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 79, 342 350.
2. Audenaert, D., Claes, L., Claeys, K.G., Deprez, L., Van Dyck, T., Goosens, D., Del-Favero, J., Van Paesschen, W., Van Broeckhoven, C. De Jonghe, P 2005) A novel susceptibility locus at 2p24 for generalized epilepsy with febrile seizures plus. J Med Genet 42, 947 952.
3. Baulac, S., Huberfeld, G., Gourfinkel-An, I., Mitropoulou, G., Beranger, A., Prud'homme, J.F., Baulac, M., Brice, A., Bruzzone, R. 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.
4. Bertina, R.M., Koeleman, B.P., Koster, T., Rosendaal, F.R., Dirven, R.J., de Ronde, H., van der Velden, P.A. Reitsma, P.H 1994) Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369, 64 67.
5. Chen, Y., Lu, J., Pan, H., Zhang, Y., Wu, H., Xu, K., Liu, X., Jiang, Y., Bao, X., Yao, Z., Ding, K., Lo, W.H.Y., Qiang, B., Chan, P., Shen, Y. Wu, X 2003) Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 54, 239 243.
6. Claes, L., Del-Favero, J., Ceulemans, B., Lagae, L., Van Broeckhoven, C. De Jonghe, P 2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68, 1327 1332.
7. Combi, R., Dalpra, L., Tenchini, M.L. Ferini-Strambi, L 2004) Autosomal dominant nocturnal frontal lobe epilepsy - a critical overview. J Neurol 251, 923 934.
8. Corder, E.H., Saunders, A.M., Strittmatter, W.J., Schmechel, D.E., Gaskell, P.C., Small, G.W., Roses, A.D., Haines, J.L. Pericak-Vance, M.A 1993) Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261, 921 923.
9. D'Agostino, D., Bertelli, M., Gallo, S., Cecchin, S., Albiero, E., Garofalo, P.G., Gambardella, A., St Hilaire, J.M., Kwiecinski, H., Andermann, E. Pandolfo, M 2004) Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology 63, 1500 1502.
10. Dean, M 2003) Approaches to identify genes for complex human diseases: lessons from Mendelian disorders. Hum Mutat 22, 261 274.
11. A receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13, 1315 1319.
12. Durner, M., Keddache, M.A., Tomasini, L., Shinnar, S., Resor, S.R., Cohen, J., Harden, C., Moshe, S.L., Rosenbaum, D., Kang, H., Ballaban-Gil, K., Hertz, S., Labar, D.R., Luciano, D., Wallace, S., Yohai, D., Klotz, I., Dicker, E. Greenberg, D.A 2001) Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol 49, 328 335.
13. Escayg, A., MacDonald, B.T., Meisler, M.H., Baulac, S., Huberfeld, G., An-Gourfinkel, I., Brice, A., LeGuern, E., Moulard, B., Chaigne, D., Buresi, C. Malafosse, A 2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24, 343 345.
14. Farrant, M. Nusser, Z 2005) Variations on an inhibitory theme: phasic and tonic activation of GABA(A) receptors. Nat Rev Neurosci 6, 215 229.
15. Feng, H.J., Kang, J.Q., Song, L., Dibbens, L., Mulley, J. Macdonald, R.L 2006) Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors. J Neurosci 26, 1499 1506.
16. Gargus, J.J 2003) Unraveling monogenic channelopathies and their implications for complex polygenic disease. Am J Hum Genet 72, 785 803.
17. Greenberg, D.A., Cayanis, E., Strug, L., Marathe, S., Durner, D., Pal, D.K., Alvin, G.B., Klotz, I., Dicker, E., Shinnar, S., Bromfield, E.B., Resor, S., Cohen, J., Moshe, S.L., Harden, C. Kang, H 2005) Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy. Am J Hum Genet 76, 139 146.
18. Gustincich, S., Batalov, S., Beisel, K.W., Bono, H., Carninci, P., Fletcher, C.F., Grimmond, S., Hirokawa, N., Jarvis, E.D., Jegla, T., Kawasawa, Y., LeMieux, J., Miki, H., Raviola, E., Teasdale, R.D., Tominaga, N., Yagi, K., Zimmer, A., Hayashizaki, Y., Okazaki, Y. RIKEN GER Group; GSL Members 2003) Analysis of the mouse transcriptome for genes involved in the function of the nervous system. Genome Res 13, 1395 1401.
19. Harkin, L.A., Bowser, D.N., Dibbens, L.M., Singh, R., Phillips, F., Wallace, R.H., Richards, M.C., Williams, D.A., Mulley, J.C., Berkovic, S.F., Scheffer, I.E. Petrou, S 2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70, 530 536.
20. Harkin L.A., McMahon J.M., Iona, X. et al 2007) The spectrum of SCN1A-related infantile epileptic encephalopathies. Brain 130, 843 852.
21. Haug, K., Warnstedt, M., Alekov, A.K. et al 2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 33, 527 532.
22. Heron, S.E., Crossland, K.M., Andermann, E., Phillips, H.A., Hall, A.J., Bleasel, A., Shevell, M., Mercho, S., Seni, M.H., Guiot, M.C., Mulley, J.C., Berkovic, S.F. Scheffer, I.E 2002) Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 360, 851 852.
23. Heron, S.E., Phillips, H.A., Mulley, J.C., Mazarib, A., Neufeld, M.Y., Berkovic, S.F. Scheffer, I.E 2004) Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol 55, 595 596.
24. Heron, S.E., Sanchez, L., Scheffer, I.E., Berkovic, S.F. Mulley, J.C 2007a) Association studies and functional validation or functional validation alone? Epilepsy Res 74, 237 238.
25. Heron, S.E., Scheffer, I.E., Berkovic, S.F., Dibbens, L.M. Mulley, J.C 2007b) Channelopathies in idiopathic epilepsy. Neurotherapeutics 4, 295 304.
26. v3.2 T-type calcium channel associated with childhood absence epilepsy. J Biol Chem 279, 9681 9684.
27. v3.2 channel mutations linked to idiopathic generalized epilepsy. Ann Neurol 57, 745 749.
28. Lenzen, K.P., Heils, A., Lorenz, S., Hempelmann, A. 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.
29. Lohmueller, K.E., Pearce, C.L., Pike, M., Lander, E.S. 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. Mulley, J.C., Scheffer, I.E., Harkin, L.A., Berkovic, S.F. Dibbens, L.M 2005a) Susceptibility genes for complex epilepsy. Hum Mol Genet 14, R243 R249.
31. Mulley, J.C., Scheffer, I.E., Petrou, S., Dibbens, L.M., Berkovic, S.F. Harkin, L.A 2005b) SCN1A mutations and epilepsy. Hum Mut 25, 535 542.
32. Nabbout, R., Gennaro, E., Dalla Bernardina, B. et al 2003) Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. Neurology 60, 1961 1967.
33. Pal, D.K., Evgrafov, O.V., Tabares, P., Zhang, F., Durner, M. Greenberg, D.A 2003) BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. Am J Hum Genet 73, 261 270.
34. v3.2 T-type calcium channel mutations linked to childhood absence epilepsy. Epilepsia 47, 655 658.
35. Phillips, H.A., Favre, I., Kirkpatrick, M., Zuberi, S.M., Goudie, D., Heron, S.E., Scheffer, I.E., Sutherland, G.R., Berkovic, S.F., Bertrand, D. Mulley, J.C 2001) CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 68, 225 231.
36. Pinto, D., Westland, B., de Haan, G.-J., Rudolf, G., Martins da Silva, B., Hirsch, E., Lindhout, D., Kasteleijn-Nolst Trenite, D.G.A. Koeleman, B.P.C 2005) Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13. Hum Mol Genet 14, 171 178.
37. Pritchard, J.K. Cox, N.J 2002) The allelic architecture of human disease genes: common disease-common variant...or not? Hum Mol Genet 11, 2417 2423.
38. Sander, T., Schulz, H., Saar, K. et al 2000) Genome search for susceptibility loci of common idiopathic generalized epilepsies. Hum Mol Genetics 9, 1465 1472.
39. Scheffer, I.E. Berkovic, S.F 2003) The genetics of human epilepsy. Trends Pharmacol Sci 24, 428 433.
40. Schulte, U., Thumfart, J.O., Klocker, N., Sailer, C.A., Bildl, W., Biniossek, M., Dehn, D., Deller, T., Eble, S., Abbass, K. Wangler, T 2006) The epilepsy-linked Lgi1 protein assembles into presynaptic Kv1 channels and inhibits inactivation by Kvbeta1. Neuron 49, 642 644.
41. v4.2 truncation mutation in a patient with temporal lobe epilepsy. Neurobiol Dis 24, 245 253.
42. Steinlein, O.K., Mulley, J.C., Propping, P., Wallace, R.H., Phillips, H.A., Sutherland, G.R., Scheffer, I.E. 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.
43. Sugawara, T., Tsurubuchi, Y., Agarwala, K.L., Ito, M., Fukuma, G., Mazaki-Miyazaki, E., Nagafuji, H., Noda, M., Imoto, K., Wada, K., Mitsudome, A., Kaneko, S., Montal, M., Nagata, K., Hirose, S. Yamakawa, K 2001) A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A 98, 6384 6389.
44. Suzuki, T., Delgado-Escueta, A.V., Aguan, K. et al 2004) Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet 36, 842 849.
45. Tan, N.C., Mulley, J.C. Berkovic, S.F 2004) Genetic association studies in epilepsy: "the truth is out there". Epilepsia 45, 1429 1442.
46. Terwilliger, J.D., Haghighi, F., Hiekkalinna, T.S. Goring, H.H 2002) A biased assessment of the use of SNPs in human complex traits. Curr Opin Genet Dev 12, 726 734.
47. Urak, L., Feucht, M., Fathi, N., Hornik, K., Fuchs, K 2006) A GABRB3 promoter haplotype associated with childhood absence epilepsy impairs transcriptional activity. Hum Mol Genet 15, 2533 2541.
48. Vitko, I., Chen, Y., Arias, J.M., Shen, Y., Wu, X.R. Perez-Reyes, E 2005) Functional characterization and neuronal modelling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J Neurosci 25, 4844 4855.
49. Wallace, R.H., Wang, D.W., Singh, R., Scheffer, I.E., George, A.L. Jr., Phillips, H.A., Saar, K., Reis, A., Johnson, E.W., Sutherland, G.R., Berkovic, S.F. Mulley, J.C 1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 19, 366 370.
50. A receptor γ2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28, 49 52.
51. Wallace, R.H., Scheffer, I.E., Parasivam, G., Barnett, S., Wallace, G.B., Sutherland, G.R., Berkovic, S.F. Mulley, J.C 2002) Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 58, 1426 1429.
52. Wallace, R., Hodgson, B.L., Grinton, B.E., Gardiner, R.M., Robinson, R., Rodrigues-Casero, V., Sadleir, L., Morgan, J., Harkin, L.A., Dibbens, L.M., Yamamoto, T., Andermann, E., Mulley, J.C., Berkovic, S.F. Scheffer, I.E 2003) Sodium Channel alpha-1 subunit mutations in Severe Myoclonic Epilepsy of Infancy and Infantile Spasms. Neurology 61, 765 769.