Neurogenetics · 2000
Supporting evidence of a gene for partial epilepsy on 10q.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Mautner V F, Lindenau M, Gottesleben A, Goetze G, Kluwe L
Аннотация
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.