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Titolo:
LOCALIZATION OF A GENE FOR PARTIAL EPILEPSY TO CHROMOSOME 10Q
Autore:
OTTMAN R; RISCH N; HAUSER WA; PEDLEY TA; LEE JH; BARKERCUMMINGS C; LUSTENBERGER A; NAGLE KJ; LEE KS; SCHEUER ML; NEYSTAT M; SUSSER M; WILHELMSEN KC;
Indirizzi:
COLUMBIA UNIV,GH SERGIEVSKY CTR NEW YORK NY 10032 COLUMBIA UNIV,SCH PUBL HLTH,DIV EPIDEMIOL NEW YORK NY 10032 COLUMBIA UNIV,DEPT NEUROL NEW YORK NY 10032 NEW YORK STATE PSYCHIAT INST & HOSP,DEPT EPIDEMIOL BRAIN DISORDERS RES NEW YORK NY 10032 STANFORD UNIV,SCH MED,DEPT GENET STANFORD CA 94305
Titolo Testata:
Nature genetics
fascicolo: 1, volume: 10, anno: 1995,
pagine: 56 - 60
SICI:
1061-4036(1995)10:1<56:LOAGFP>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
JUVENILE MYOCLONIC EPILEPSY; IDIOPATHIC GENERALIZED EPILEPSY; FAMILIAL NEONATAL CONVULSIONS; LINKAGE ANALYSIS; HLA REGION; LOCUS; COMPUTATIONS; MARKERS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
R. Ottman et al., "LOCALIZATION OF A GENE FOR PARTIAL EPILEPSY TO CHROMOSOME 10Q", Nature genetics, 10(1), 1995, pp. 56-60

Abstract

There is strong evidence for a genetic contribution to epilepsy, but it is commonly assumed that this genetic contribution is limited to 'generalized' epilepsies, and that most forms of 'partial' epilepsy are nongenetic. In a linkage analysis of a single family containing 11 affected individuals, we obtained strong evidence for localization of a gene for partial epilepsy. This susceptibility gene maps to chromosome 10q, with a maximum two-point lod score for D10S192 of 3.99 at theta=0.0. All affected individuals share a single haplotype for seven tightly linked contiguous markers; the maximum rod score for this haplotype is 4.83 at theta=0.0. Key recombinants place the susceptibility locus within a 10 centimorgan interval.

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Documento generato il 05/07/20 alle ore 07:15:28