NORSE, FIRES, and a Polygenic Trickle of Autoimmunity.
作者信息
Helbig Ingo, Ganesan Shiva
机构信息
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA.
出版信息
Ann Neurol. 2025 Feb;97(2):386-387. doi: 10.1002/ana.27148. Epub 2024 Dec 7.
Abstract
摘要
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本文引用的文献
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Polygenic Landscape of Cryptogenic New-Onset Refractory Status Epilepticus: A Comprehensive Whole-Genome Sequencing Study.不明原因新发耐药性癫痫的多基因景观：全基因组测序综合研究。
Ann Neurol. 2024 Dec;96(6):1201-1208. doi: 10.1002/ana.27100. Epub 2024 Oct 23.
2
NORSE/FIRES: how can we advance our understanding of this devastating condition?北欧卒中/发热性疾病相关性癫痫综合征：我们如何增进对这种毁灭性病症的理解？
Front Neurol. 2024 Aug 8;15:1426051. doi: 10.3389/fneur.2024.1426051. eCollection 2024.
3
Polygenic risk scores as a marker for epilepsy risk across lifetime and after unspecified seizure events.多基因风险评分作为一生中及不明原因癫痫发作后癫痫风险的标志物。
Nat Commun. 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z.
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Second-line immunotherapy in new onset refractory status epilepticus.二线免疫治疗新发耐药性癫痫持续状态。
Epilepsia. 2024 May;65(5):1203-1223. doi: 10.1111/epi.17933. Epub 2024 Mar 2.
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Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.家族性内侧颞叶癫痫：临床谱及多基因结构的遗传证据。
Ann Neurol. 2023 Nov;94(5):825-835. doi: 10.1002/ana.26765. Epub 2023 Aug 31.
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Ann Clin Transl Neurol. 2020 Aug;7(8):1429-1435. doi: 10.1002/acn3.51062. Epub 2020 Jul 14.
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Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.癫痫的遗传学诊断：动态外显子组分析在儿科队列中的影响。
Epilepsia. 2020 Feb;61(2):249-258. doi: 10.1111/epi.16427. Epub 2020 Jan 19.
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New onset refractory status epilepticus (NORSE).新起耐药性癫痫持续状态（NORSE）。
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Epilepsia. 2018 Apr;59(4):745-752. doi: 10.1111/epi.14022. Epub 2018 Feb 24.
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