Letts V A, Beyer B J, Frankel W N
The Jackson Laboratory, Bar Harbor, ME, USA.
Genes Brain Behav. 2014 Jul;13(6):519-26. doi: 10.1111/gbb.12142. Epub 2014 Jun 16.
Twenty-seven inbred strains of mice were tested for spike-wave discharge (SWD) activity by video-electroencephalographic recordings over a 24-h recording period. Eight strains had reproducible, frequent SWDs, including five strains (C57BLKS/J, CBA/J, DBA/1J, NOR/LtJ, SM/J) previously undiagnosed for this distinctive phenotype. Eighteen other strains exhibited no such activity. Spike-wave discharges usually occurred while the subject was motionless, and in a significant number of annotated instances coincided with an arrest of the subject's relatively unrestrained locomotor activity, which resumed immediately after the discharge ended. In all five new strains, SWDs were suppressed by ethosuximide administration. From the genealogy of inbred strains, we suggest that two ancestors, A and DBA, transmitted genotypes required for SWD in all positive strains. Together these strains with SWDs provide new opportunities to understand the genetic core susceptibility of this distinctive electroencephalographic activity and to explore its relationship to absence epilepsy, a human disorder for which few genes are known.
通过视频脑电图记录,在24小时的记录期内对27个近交系小鼠进行了尖波放电(SWD)活动测试。八个品系具有可重复的频繁SWD,其中包括五个先前未诊断出这种独特表型的品系(C57BLKS/J、CBA/J、DBA/1J、NOR/LtJ、SM/J)。其他18个品系未表现出此类活动。尖波放电通常在受试动物静止时发生,并且在大量标注的实例中与受试动物相对不受限制的运动活动停止同时出现,放电结束后运动活动立即恢复。在所有五个新品系中,乙琥胺给药可抑制SWD。从近交系的谱系来看,我们认为两个祖先品系A和DBA传递了所有阳性品系中SWD所需的基因型。这些具有SWD的品系共同为理解这种独特脑电图活动的遗传核心易感性以及探索其与失神癫痫(一种已知相关基因很少的人类疾病)的关系提供了新机会。