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Titolo:
SEGREGATION ANALYSIS OF CRYPTOGENIC EPILEPSY AND AN EMPIRICAL-TEST OFTHE VALIDITY OF THE RESULTS
Autore:
OTTMAN R; HAUSER WA; BARKERCUMMINGS C; LEE JH; RISCH N;
Indirizzi:
COLUMBIA UNIV,GH SERGIEVSKY CTR,630 W 168TH ST NEW YORK NY 10032 COLUMBIA UNIV,SCH PUBL HLTH,DIV EPIDEMIOL NEW YORK NY 10032 NEW YORK STATE PSYCHIAT INST & HOSP,EPIDEMIOL BRAIN DISORDERS RES DEPT NEW YORK NY 10032 COLUMBIA UNIV COLL PHYS & SURG,DEPT NEUROL NEW YORK NY 10032 STANFORD UNIV,SCH MED,DEPT GENET STANFORD CA 94305
Titolo Testata:
American journal of human genetics
fascicolo: 3, volume: 60, anno: 1997,
pagine: 667 - 675
SICI:
0002-9297(1997)60:3<667:SAOCEA>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL NEONATAL CONVULSIONS; SEMISTRUCTURED INTERVIEW; SEIZURE CLASSIFICATION; LOCALIZATION; GENE; PREVALENCE; DISORDERS; ROCHESTER; MINNESOTA; RISK;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
28
Recensione:
Indirizzi per estratti:
Citazione:
R. Ottman et al., "SEGREGATION ANALYSIS OF CRYPTOGENIC EPILEPSY AND AN EMPIRICAL-TEST OFTHE VALIDITY OF THE RESULTS", American journal of human genetics, 60(3), 1997, pp. 667-675

Abstract

We used POINTER to perform segregation analysis of cryptogenic epilepsy in 1,557 three-generation families (probands and their parents, siblings, and offspring) ascertained from voluntary organizations. Analysis of the full data set indicated that the data were most consistent with an autosomal dominant (AD) model with 61% penetrance of the susceptibility gene. However, subsequent analyses revealed that the patternsof familial aggregation differed markedly between siblings and offspring of the probands. Risks in siblings were consistent with an autosomal recessive (AR) model and inconsistent with an AD model whereas risks in offspring were inconsistent with an AR model and more consistent with an AD model. As a further test of the validity of the AD model, we used sequential ascertainment to extend the family history information in the subset of families judged likely to carry the putative susceptibility gene because they contained at least three affected individuals. Prevalence of idiopathic/cryptogenic epilepsy was only 3.7% in newly identified relatives expected to have a 50% probability of carrying the susceptibility gene under an AD model. Approximately 30% (i.e., 50% x 61%) were expected to be affected under the AD model resulting from the segregation analysis. These results suggest that the familial distribution of cryptogenic epilepsy is inconsistent with any conventional genetic model. The differences between siblings and offspring in the patterns of familial risk are intriguing and should be investigated further.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 15:18:37