Haplotype and linkage disequilibrium analysis to characterise a region in the calcium channel gene CACNA1A associated with idiopathic generalised epilepsy

European Journal of Human Genetics

Volumn 10, Issue 12, 2002, Pages 857-864

  Chioza, Barry ^a   Osei Lah, Abena ^b   Nashef, Lina ^b,c   Suarez Merino, Blanca ^d   Wilkie, Hazel ^a   Sham, Pak ^a   Knight, Jo ^a   Asherson, Philip ^a   Makoff, Andrew ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c KENT AND CANTERBURY HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

CACNA1A; Haplotype; Idiopathic generalised epilepsy (IGE); Linkage disequilibrium; SNPs; Voltage gated calcium channel

Indexed keywords

CALCIUM ION; DNA; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; ARTICLE; CONTROLLED STUDY; DNA SPLICING; EXON; FAMILY; FEMALE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HAPLOTYPE; HUMAN; IDIOPATHIC DISEASE; INTRON; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0036922940     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200896     Document Type: Article

References (40)

1. Beck-Mannagetta G, Janz D, Hoffmeister U: Genetics of the Epilepsies. Berlin: Springer-Verlag, 1989; pp 119-126.
2. Gedda L, Tatarelli R: Essential isochronic epilepsy in MZ twin pairs. Acta Genet Med Gemellol (Roma) 1971; 20: 380-383.
3. Berkovic SF, Howell RA, Hay DA, Hopper JL: Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998; 43: 435-445.
4. Commission on Classification Terminology of the International League Against Epilepsy: Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389-399.
5. Beck-Mannagetta G, Janz D: Syndrome-related genetics in generalized epilepsy. Epilepsy Res 1991; 4 (Suppl): 105-111.
6. Bianchi A: Study of concordance of symptoms in families with absence epilepsies; In Panayiotopoulos D (ed): Typical absences and related epileptic syndromes. Europe: Churchill Communications Limited, 1995, pp 328-337.
7. Berkovic SF, Howell RA, Hay DA, Hopper JL: Epilepsies in twins. London: John Libbey, 1994; pp 157-164.
8. Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
9. Risch NJ: Searching for genetic determinants in the new millennium. Nature 2000; 405: 847-856.
10. Heller AH, Dichter MA, Sidman RL: Anticonvulsant sensitivity of absence seizures in the tottering mutant mouse. Epilepsia 1983; 24: 25-34.
11. de Curtis M, Avanzini G: Thalamic regulation of epileptic spike and wave discharges. Funct Neurol 1994; 9: 307-326.
12. Snead III OC: Basic mechanisms of generalized absence seizures. Ann Neurol 1995; 37: 146-157.
13. Fletcher CF, Lutz CM, O'Sullivan TN et al: Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996; 87: 607-617.
14. Burgess DL, Jones JM, Meisler MH, Noebels JL: Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse. Cell 1997; 88: 385-392.
15. Barclay J, Balaguero N, Mione M et al: Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci 2001; 21: 6095-6104.
16. Mori Y, Wakamori M, Oda S et al: Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)). J Neurosci 2000; 20: 5654-5662.
17. Zwingman TA, Neumann PE, Noebels JL, Herrup K: Rocker is a new variant of the voltage-dependent calcium channel gene Cacna1a. J Neurosci 2001; 21: 1169-1178.
18. Ophoff RA, Terwindt GM, Vergouwe MN et al: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996; 87: 543-552.
19. Zhuchenko O, Bailey J, Bonnen P et al: Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet 1997; 15: 62-69.
20. Jouvenceau A, Eunson LH, Spauschus A et al: Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 2001; 358: 801-807.
21. Chioza B, Wilkie H, Nashef L et al: Association between the alpha (1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 2001; 56: 1245-1246.
22. Sander T, Peters C, Janz D et al: The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy. Epilepsy Res 1998; 29: 115-122.
23. Engel Jr J: A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001; 42: 796-803.
24. Meulenbelt I, Droog S, Trommelen GJ, Boomsma DI, Slagboom PE: High-yield noninvasive human genomic DNA isolation method for genetic studies in geographically dispersed families and populations. Am J Hum Genet 1995; 57: 1252-1254.
25. Terwilliger J, Ott J: Handbook of Human Genetic Linkage. Baltimore: The Johns Hopkins University Press, 1994; pp 188-198.
26. Spielman RS, McGinnis RE, Ewens WJ: Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516.
27. Xie X, Ott J: Testing linkage disequilibrium between a disease gene and marker loci. Am J Hum Genet 1993; 53 (Suppl): 1107.
28. Klitz W, Stephens JC, Grote M, Carrington M: Discordant patterns of linkage disequilibrium of the peptide-transporter loci within the HLA class II region. Am J Hum Genet 1995; 57: 1436-1444.
29. Zhao JH, Curtis D, Sham PC: Model-free analysis and permutation tests for allelic associations. Hum Hered 2000; 50: 133-139.
30. Cordell HJ, Clayton DG: A unified stepwise regression procedure for evaluating the relative effects of polymorphisms within a gene using case/control or family data: application to HLA in type 1 diabetes. Am J Hum Genet 2002; 70: 124-141.
31. Daly MJ, Rioux JD, Schaffner SF, Hudson TJ, Lander ES: High-resolution haplotype structure in the human genome. Nat Genet 2001; 29: 229-232.
32. Johnson GC, Esposito L, Barratt BJ et al: Haplotype tagging for the identification of common disease genes. Nat Genet 2001; 29: 233-237.
33. Reich DE, Cargill M, Bolk S et al: Linkage disequilibrium in the human genome. Nature 2001; 411: 199-204.
34. Sander T, Toliat M, Heils A, Becker C, Nurnberg P: Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha1A calcium channel gene and common syndromes of idiopathic generalized epilepsy. Epilepsy Res 2002; 49: 173-177.
35. Wilkie HJ, Osei-Lah A, Chioza B et al: Association of the muopioid receceptor subunit gene and idiopathic generalised epilepsy. Neurology 2002; 59: 724-728.
36. Bourinet E, Soong TW, Sutton K et al: Splicing of alpha 1A subunit gene generates phenotypic variants of P- and Q-type calcium channels. Nat Neurosci 1999; 2: 407-415.
37. Ophoff RA, Terwindt GM, Frants RR, Ferrari MD: P/Q-type Ca2+ channel defects in migraine, ataxia and epilepsy. Trends Pharmacol Sci 1998; 19: 121-127.
38. Wada T, Kobayashi N, Takahashi Y, Aoki T, Watanabe T, Saitoh S: Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia. Pediatr Neurol 2002; 26: 47-50.
39. Ducros A, Denier C, Joutel A et al: Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia. Am J Hum Genet 1999; 64: 89-98.
40. Chioza B, Nashef L, Asherson P, Makoff AJ: CACNA1A and P/Q-type calcium channels in idiopathic generalised epilepsy. Lancet 2002; 359: 258.