Epilepsies in twins: Genetics of the major epilepsy syndromes

Annals of Neurology

Volumn 43, Issue 4, 1998, Pages 435-445

  Berkovic, Samuel F ^a,c   Howell, R Anne ^a   Hay, David A ^b   Hopper, John L ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

^b LA TROBE UNIVERSITY   (Australia)

^c AUSTIN HEALTH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EPILEPSY; FOCAL EPILEPSY; GENERALIZED EPILEPSY; GENETICS; HEREDITY; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; TWINS; ZYGOSITY;

ANALYSIS OF VARIANCE; AUSTRALIA; DISEASES IN TWINS; EPILEPSY; FEMALE; FEVER; HUMANS; LONGITUDINAL STUDIES; MALE; REGISTRIES; SEIZURES; SEX CHARACTERISTICS; SYNDROME; TWINS, DIZYGOTIC; TWINS, MONOZYGOTIC;

EID: 0031748082     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430405     Document Type: Article

References (57)

1. Andermann E. Multifactorial inheritance of generalized and focal epilepsy. In: Anderson VE, Hauser WA, Penry JK, Sing CF, eds. Genetic basis of the epilepsies. New York: Raven Press, 1982:129-145
2. DeLorenzo RJ. The challenging genetics of epilepsy. Epilepsy Res 1991;(Suppl 4):3-17
3. Gardiner RM. Genes and epilepsy. J Am Genet 1990;27:537-544
4. Berkovic SF. Genetics of epilepsy syndromes. In: Engel J Jr, Pedley TA, eds. Epilepsy: a comprehensive textbook. Philadelphia: Lippincott-Raven, 1997:217-224
5. Lennox WG, Lennox MA. Epilepsy and related disorders. Boston: Little, Brown, 1960:548-574
6. Berkovic SF, Andermann F, Andermann E, Gloor P. Concepts of absence epilepsies: discrete syndromes or biological continuum? Neurology 1987;37:993-1000
7. Berkovic SF, Reutens DC, Andermann E, Andermann F. The epilepsies: specific syndromes or a neurobiological continuum? In: Wolf P, ed. Epileptic seizures and syndromes. London: John Libbey 1994:25-37
8. Hauser WA, Anderson VE. Genetics of epilepsy. In: Pedley TA, Meldrum BS, eds. Recent advances in epilepsy 3. Edinburgh: Churchill Livingstone, 1986:21-36
9. Berkovic SF, Scheffer IE. Epilepsies with single gene inheritance. Brain Dev 1997;19:13-18
10. Leppert M, Anderson VE, Quattlebaum TG, et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-648
11. Lewis TB, Leach RJ, Ward K, et al. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993;53:670-676
12. Phillips HA, Scheffer IE, Berkovic SF, et al. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 1995;10:117-118
13. Ottman R, Risch N, Hauser WA, et al. Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 1995; 10: 56-60
14. Guipponi M, Rivier F, Vigevano F, et al. Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q. Hum Mol Genet 1997;6:473-477
15. Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:201-203
16. Greenberg DA, Delgado-Escueta AV, Widelitz H, et al. Juvenile myoclonic epilepsy may be linked to the Bf and HLA loci on human chromosome 6. Am J Med Genet 1988;31:185-192
17. Zara F, Bianchi A, Avanzini G, et al. Mapping of genes predis-posing to idiopathic generalized epilepsy. Hum Mol Genet 1995;4:1201-1207
18. Liu AW, Delgado-Escueto AV, Serratosa JM, et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am J Hum Genet 1995;57:368-381
19. Elmslie FV, Williamson MP, Rees M, et al. Linkage analysis of juvenile myoclonic epilepsy and microsatellite loci spanning 61 cM of human chromosome 6p in 19 nuclear pedigrees provides no evidence for a susceptibility locus in this region. Am J Hum Genet 1996;59:653-663
20. Hrubec Z, Robinette CD. The study of human twins in medical research. N Engl J Med 1984;310:435-441
21. Berkovic SF, Howell RA, Hay DA, Hopper JL. Twin birth is not a risk factor for seizures. Neurology 1993;43:2515-2519
22. RosanofF AJ, Handy LM, Rosanoff IA. Etiology of epilepsy with special reference to its occurrence in twins. Arch Neurol Psychiatry 1934;31:1165-1193
23. Conrad K. Erbanlage und Epilepsie: Untersuchungen an einer Serie von 253 Zwillingspaaren. Z Neurol Psychiatry 1935;153: 271-326
24. Inouye E. Observations on forty twin index cases with chronic epilepsy and their co-twins. J Nerv Ment Dis 1960;130:401-416
25. Marshall AG, Hutchinson EO, Honisett J. Heredity in common diseases: a retrospective survey of twins in a hospital population. BMJ 1962;1:1-6
26. Braconi L. La ricera gemellologica nell'epilepssia. Acta Genet Med Gemellol (Roma) 1962;11:138-157
27. Lennox-Buchthal M. Febrile convulsions: a reappraisal. Electroencephalogr Clin Neurophysiol 1973;(Suppl 32):37-38
28. Harvald B, Hauge M. Hereditary factors elucidated by twin studies. In: Neel JV, Shaw MW, Schull WJ, eds. Genetics and the epidemiology of chronic diseases. Washington, DC: US Department of Health and Human Services, Public Health Service, 1965:61-96
29. Schiθttz-Christensen E. Genetic factors in febrile convulsions: an investigation of 64 same-sexed twin pairs. Acta Neurol Scand 1972;48:538-546
30. Corey LA, Berg K, Pellock JM, et al. The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins. Neurology 1991;41:1433-1436
31. Sillanpää M, Koskenvuo M, Romanov K, Kaprio J. Genetic factors in epileptic seizures: evidence from a large twin population. Acta Neurol Scand 1991;84:523-526
32. Commission on Classification and Terminology of the International League against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981;22:489-501
33. 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
34. Berkovic SF, Howell RA, Howell DA, Hopper JL. Epilepsies in twins. In: Wolf P, ed. Epileptic seizures and syndromes. London: John Libby, 1994:157-164
35. Hay DA, O'Brien PJ. The La Trobe twin study: a genetic approach to the structure and development of cognition in twin children. Child Dev 1983;54:317-330
36. Clifford CA, Hopper JL. The Australian NHMRC Twin Registry. Med J Aust 1986;145:63-65
37. Kasriel J, Eaves LJ. The zygosity of twins: further evidence on the agreement between diagnosis by blood groups and written questionnaires. J Biosci Soc 1976;8:263-266
38. Sarna S, Kaprio J, Sistonen P, Koskenvuo M. Diagnosis of twin zygosity by mailed questionnaire. Hum Hered 1978;28:241-254
39. Hopper J. Genes for osteoarrhritis: interpreting twin data. BMJ 1996;312:943-944
40. McGue M. When assessing twin concordance, use the probandwise not the pairwise rate. Schizophr Bull 1992;18:171-176
41. Alien G, Harvald B, Shields J. Measures of twin concordance. Acta Genet (Basel) 1967;17:475-481
42. Hopper JL. Twin concordance. In: Elston RC, ed. Encyclopedia of biostatistics. Vol 6. New York: Wiley, 1998:4626-4629
43. Baker RJ, Neider JA. The GLIM system, release 3. Generalized linear interactive modelling. Oxford: Numerical Alogrithms Group, 1978
44. Berkovic SF, Kennerson ML, Howell RA, et al. Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. Arch Neurol 1994;51:1125-1128
45. Manford M, Hart YM, Sander JWAS, Shorvon SD. National General Practice Study of Epilepsy: the syndromic classification of the International League Against Epilepsy applied to epilepsy in a general population. Arch Neurol 1992;49:801-808
46. Loiseau P, Duche B, Loiseau J. Classification of epilepsies and epileptic syndromes in two different samples of patients. Epilepsia 1991;32:303-309
47. Alien G. Twin research: problems and prospects. In: Steinberg AG, Beam AG, eds. Prog Med Genet 1965;4:242-269
48. Falconer MA. Genetic and related etiological factors in temporal lobe epilepsy: a review. Epilepsia 1971;12:13-31
49. Ottman R. Genetics of the partial epilepsies: a review. Epilepsia 1989;30:107-111
50. Berkovic SF, Scheffer IE. Genetics of human partial epilepsy. Curr Opin Neurol 1997;10:110-114
51. Berkovic SF, McIntosh AM, Howell RA, et al. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol 1996;40;227-235
52. Kajitani T, Nakamura M, Ueoka K, Kobuchi S. Three pairs of monozygotic twins with rolandic discharges. In: Wada JA, Penry JK, eds. Advances in epileptology: the 10th epilepsy international symposium. New York: Raven Press, 1980:171-175
53. Rich SS, Annegers JF, Hauser WA, Anderson VE. Complex segregation analysis of febrile convulsions. Am J Hum Genet 1987;41:249-257
54. Wallace RH, Berkovic SF, Howell RA, et al. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996;33:308-312
55. Feekery CJ, Parry-Fielder B, Hopkins IJ. Landau-Kleffner syndrome: six patients including discordant monozygous twins. Pediatr Neurol 1993;9:49-53
56. Hannah MC, Hopper JL, Mathew JD. Twin concordance for a binary trait. I. Statistical models illustrated with data on drinking status. Acta Genet Med Gemellol 1983;32:127-137
57. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490