Segregation analysis of cryptogenic epilepsy and an empirical test of the validity of the results

American Journal of Human Genetics

Volumn 60, Issue 3, 1997, Pages 667-675

  Ottman, Ruth ^a,b   Hauser, W Allen ^a,c   Barker Cummings, Christie ^a   Lee, Joseph H ^a   Risch, Neil ^d  

^a Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H Sergievsky Center   (United States)

^b NEW YORK STATE PSYCHIATRIC INSTITUTE   (United States)

^c College of Physicians and Surgeons ^*  (United States)

^d STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; DIAGNOSTIC ACCURACY; DISEASE CLASSIFICATION; EPILEPSY; HUMAN; MAJOR CLINICAL STUDY; PENETRANCE; PRIORITY JOURNAL; RISK ASSESSMENT; SEGREGATION ANALYSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EPILEPSY; HUMANS; INFANT; MIDDLE AGED; MODELS, GENETIC; MODELS, STATISTICAL; PHENOTYPE; RISK FACTORS;

EID: 0031027501     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (28)

1. Annegers JF, Hauser WA, Anderson VE, Kurland LT (1982) The risks of seizure disorders among relatives of patients with childhood onset epilepsy. Neurology 32:174-179
2. Commission on Classification and Terminology of the International League Against Epilepsy (1981) Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 22:489-501
3. _ (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30:389-399
4. Davie AM (1979) The "singles" method for segregation analysis under incomplete ascertainment. Ann Hum Genet 42: 507-512
5. Greenberg DA, Delgado-Escueta AV, Widelitz H, Sparkes RS, Treiman L, Maldonado HM, Park MS, et al (1988) Juvenile myoclonic epilepsy may be linked to the BF and HLA loci on human chromosome 6. Am J Med Genet 31:185-192
6. Hauser WA, Annegers JF, Kurland LT (1991) Prevalence of epilepsy in Rochester, Minnesota: 1940-1980. Epilepsia 32: 429-445
7. _ (1993) Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984. Epilepsia 34:453-468
8. Lalouel JM, Morton NE (1981) Complex segregation analysis with pointers. Hum Hered 31:312-321
9. Lehesjoki A, Koskiniemi M, Sistonen P, Miao J, Hastabcka J, Norio R, de la Chapelle A (1991) Localization of a gene for the progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci USA 88:3696-3699
10. Leppert M, Anderson VE, Quattlebaum T, Stauffer D, O'Connell P, Nakamura Y, Lalouel JM, et al (1989) Benign neonatal convulsions linked to genetic markers on chromosome 20. Nature 337:647-648
11. Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG (1993) Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 53:670-675
12. Morton NE (1969) Segregation analysis. In: Morton NE (ed) Computer applications in genetics. University of Hawaii Press, Honolulu, pp 129-139
13. Ottman R (1987) A simple test of the multifactorial-polygenic model with sex-dependent thresholds. J Chron Dis 40:165-170
14. Ottman R, Annegers JF, Hauser WA, Kurland LT (1988) Higher risk of seizures in offspring of mothers than of fathers with epilepsy. Am J Hum Genet 43:257-264
15. Ottman R, Annegers JF, Risch N, Hauser WA, Susser M (1996a) Relations of genetic and environmental factors in the etiology of epilepsy. Ann Neurol 39:442-449
16. Ottman R, Hauser WA, Stallone L (1990) Semistructured interview for seizure classification: agreement with physicians' diagnoses. Epilepsia 31:110-115
17. Ottman R, Hauser WA, Susser M (1985) Genetic and maternal influences on susceptibility to seizures: an analytic review. Am J Epidemiol 122:923-939
18. _ (1993a) Validity of family history data on seizure disorders. Epilepsia 34:469-475
19. Ottman R, Lee JH, Hauser WA (1995a) Are generalized and partial epilepsies genetically distinct? Neurology Suppl 45 (4): A215
20. Ottman R, Lee JH, Hauser WA, Hong S, Hesdorffer D, Schupf N, Pedley TA, et al (19936) Reliability of seizure classification using a semistructured interview. Neurology 43:2526-2530
21. Ottman R, Lee JH, Hauser WA, Risch N (19956) Birth cohort and familial risk of epilepsy: the effect of diminished recall in studies of lifetime prevalence. Am J Epidemiol 141:235-241
22. Ottman R, Lee JH, Hauser WAH, Risch N, Susser M (1996b) Clinical indicators of genetic susceptibility to epilepsy. Epilepsia 37:353-361
23. Ottman R, Risch N, Hauser WA, Pedley TA, Lee JH, BarkerCummings C, Lustenberger A, et al (1995c) Localization of a gene for partial epilepsy to chromosome 10q. Nat Genet 10:56-60
24. Ottman R, Susser M (1992) Data collection strategies in genetic epidemiology: the Epilepsy Family Study of Columbia University. J Clin Epidemiol 45:721-727
25. Phillips HA, Scheffer IE, Berkovic SF, Holloway GE, Sutherland GR, Mulley JC (1995) Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 10:117-118
26. Schupf N, Ottman R (1994) The likelihood of pregnancy in individuals with idiopathic/cryptogenic epilepsy: social and biologic influences. Epilepsia 35:750-756
27. _ (1996) Reproduction among individuals with idiopathic/cryptogenic epilepsy: risk factors for reduced fertility within marriage. Epilepsia 37:833-840
28. Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, et al (1994) The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci USA 90:7267-7270