Detection of Somatic Mutations in Sporadic Epilepsies

寻找癫痫的遗传原因对于完善治疗和遗传咨询至关重要。基因突变可能发生在受精后(体细胞突变)。这些可能很难通过常规的基因测试检测出来。我们的目标是通过以下方式识别体细胞突变：对血液进行非常深入的测序，以发现低浓度的突变，分析脑脊液中的DNA，以及分析从鼻子后面获得的DNA，后者与脑组织密切相关。

Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.