Massive parallel sequencing in the genetics of epilepsy

癫痫是一种严重的疾病，在其生命的某个阶段影响约2%的人口，并且约30%的患者无法用目前可用的药物充分控制其癫痫发作。大约70%的癫痫是遗传性的，到目前为止，大多数的遗传原因尚未被发现。我的团队旨在识别新的癫痫基因。这导致了对患者的诊断、治疗和咨询的改进，并增加了对癫痫发作的生物学机制的理解。

Epilepsy is a serious disorder which affects approximately 2% of the population at some stage in their life and around 30% of patients do not gain adequate control of their seizures with medications presently available. Approximately 70% of epilepsy in inherited and so far the majority of the genetic causes are yet to be discovered. My group aims to identify new epilepsy genes. This leads to improved diagnosis, treatment and counseling for patients and increased understanding of the biological mechanisms underlying seizures.