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Observational Study
. 2024 Dec;96(6):1201-1208.
doi: 10.1002/ana.27100. Epub 2024 Oct 23.

Polygenic Landscape of Cryptogenic New-Onset Refractory Status Epilepticus: A Comprehensive Whole-Genome Sequencing Study

Yoonhyuk Jang #  1   2   3 , Sung Eun Hong #  4 , Soo Hyun Ahn  1 , Su Yee Mon  1 , Ji Hye You  1 , Kon Chu  1 , Sang Kun Lee  1 , Murim Choi  4 , Soon-Tae Lee  1
Affiliations
Observational Study

Polygenic Landscape of Cryptogenic New-Onset Refractory Status Epilepticus: A Comprehensive Whole-Genome Sequencing Study

Yoonhyuk Jang et al. Ann Neurol. 2024 Dec.

Abstract

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.

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References

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