Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Jongno-gu, Seoul, South Korea.
Biomedical Research Institute, Seoul National University Hospital, Jongno-gu, Seoul, South Korea.
Ann Neurol. 2024 Dec;96(6):1201-1208. doi: 10.1002/ana.27100. Epub 2024 Oct 23.
Cryptogenic new-onset refractory status epilepticus (cNORSE) is a devastating condition with unclear pathogenesis. Here, we analyzed the genetic underprints of 31 cNORSE patients from an autoimmune encephalitis observational cohort through whole-genome sequencing. Compared to their controls, cNORSE patients exhibited elevated polygenic risk scores (PRS) for traits associated with autoimmune diseases. The individual PRS against these diseases were correlated with specific clinical phenotypes of cNORSE. The variants were enriched in genes expressed in the central nervous system and lymphocytes. These results suggest a shared genetic framework between cNORSE and other autoimmune/autoinflammatory diseases, and its involvement in the disease pathogenesis. ANN NEUROL 2024;96:1201-1208.
不明原因的新发耐药性癫痫持续状态（cNORSE）是一种发病机制尚不明确的破坏性疾病。在这里，我们通过全基因组测序分析了自身免疫性脑炎观察队列中的 31 例 cNORSE 患者的遗传基础。与对照组相比，cNORSE 患者与自身免疫性疾病相关的特征的多基因风险评分（PRS）升高。针对这些疾病的个体 PRS 与 cNORSE 的特定临床表型相关。这些变体富集在中枢神经系统和淋巴细胞中表达的基因中。这些结果表明 cNORSE 与其他自身免疫/自身炎症性疾病之间存在共同的遗传框架，并提示其参与了疾病的发病机制。神经病学年鉴 2024；96:1201-1208.
