Juvenile myoclonic epilepsy (JME) is the most common genetic generalized epilepsy syndrome. Myoclonus may relate to motor system hyperexcitability and can be provoked by cognitive activities. To aid genetic mapping in complex neuropsychiatric disorders, recent research has utilized imaging intermediate phenotypes (endophenotypes). Here, we aimed to (a) characterize activation profiles of the motor system during different cognitive tasks in patients with JME and their unaffected siblings, and (b) validate those as endophenotypes of JME.

中文翻译：

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认知任务期间的运动过度激活：青少年肌阵挛癫痫的内表型

青少年肌阵挛癫痫（JME）是最常见的遗传性全身性癫痫综合征。肌阵挛可能与运动系统过度兴奋有关，并且可由认知活动引起。为了帮助复杂神经精神疾病的基因图谱绘制，最近的研究利用了中间表型（内表型）成像。在这里，我们的目的是（a）表征 JME 患者及其未受影响的兄弟姐妹在不同认知任务期间运动系统的激活概况，以及（b）验证这些作为 JME 的内表型。