Supporting evidence of a gene for partial epilepsy on 10q

被引:22
作者
Mautner, VF
Lindenau, M
Gottesleben, A
Goetze, G
Kluwe, L
机构
[1] Univ Hamburg, Hosp Eppendorf, Dept Neurosurg, Lab Brain Tumor Biol, D-20246 Hamburg, Germany
[2] Klinkum Nord Ochsenzoll, Dept Neurol, Hamburg, Germany
关键词
partial seizure; epilepsy; 10q;
D O I
10.1007/s100480000091
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A four-generation family with nine individuals with temporal partial epilepsy was studied. Detailed epilepsy history was investigated by structured interview. All putatively affected family members underwent a standardized electroencephalographic examination. The phenotype in the family was characterized by a short acoustic aura followed by rapid secondary generalization. To examine if the trait is linked to a region on 10q (interval D10S185-D10S1671), which has been reported in two other epilepsy families with similar phenotypes linkage analysis was performed using nine markers covering the previously reported region. A maximum two-point LOD score of 2.1 at a recombination fraction of zero was obtained. All living affected individuals shared the same haplotype, while three unaffected at-risk adults did not. This result presents supporting evidence of a gene for partial epilepsy on 10q.
引用
收藏
页码:31 / 34
页数:4
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