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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.

DOI:10.1002/ana.27148
PMID:39644168
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11740266/
Abstract
摘要

相似文献

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NORSE, FIRES, and a Polygenic Trickle of Autoimmunity.北欧人种、火与自身免疫的多基因涓流
Ann Neurol. 2025 Feb;97(2):386-387. doi: 10.1002/ana.27148. Epub 2024 Dec 7.
2
How to Help Your Patients Enroll in the New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) Family Registry, and Other Rare Epilepsy Registries.如何帮助您的患者加入新发难治性癫痫持续状态（NORSE）和发热感染相关癫痫综合征（FIRES）家庭登记册以及其他罕见癫痫登记册。
Epilepsy Curr. 2021 Mar 5:1535759721998329. doi: 10.1177/1535759721998329.
3
Functional outcomes of patients with NORSE and FIRES treated with immunotherapy: A systematic review.免疫疗法治疗 NORSE 和 FIRES 患者的功能结局：系统评价。
Neurologia (Engl Ed). 2024 Oct;39(8):629-638. doi: 10.1016/j.nrleng.2022.03.004. Epub 2022 Sep 22.
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New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES) of unknown aetiology: A comparison of the incomparable?新起难治性癫痫持续状态（NORSE）和病因不明的热性感染相关癫痫综合征（FIRES）：不可比因素的比较？
Seizure. 2022 Mar;96:18-21. doi: 10.1016/j.seizure.2022.01.006. Epub 2022 Jan 11.
5
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.发热感染相关癫痫综合征（FIRES）：治疗概述及近期专利
Recent Pat Inflamm Allergy Drug Discov. 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450.
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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.
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Communication trends over time in new-onset refractory status epilepticus (NORSE): Interim analysis from the NORSE/FIRES Family Registry.新起耐药性癫痫持续状态（NORSE）的时间沟通趋势：NORSE/FIRES 家族登记处的中期分析。
Epilepsy Behav. 2024 Nov;160:110023. doi: 10.1016/j.yebeh.2024.110023. Epub 2024 Sep 5.
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The seasonality of new-onset refractory status epilepticus (NORSE).新发性耐药性癫痫持续状态（NORSE）的季节性。
Epilepsia. 2023 Jun;64(6):e112-e117. doi: 10.1111/epi.17606. Epub 2023 Apr 13.
9
New onset refractory status epilepticus (NORSE).新起耐药性癫痫持续状态（NORSE）。
Seizure. 2019 May;68:72-78. doi: 10.1016/j.seizure.2018.09.018. Epub 2018 Sep 29.
10
Early clinical features of new-onset refractory status epilepticus (NORSE) in adults.成人新发难治性癫痫持续状态（NORSE）的早期临床特征。
BMC Neurol. 2022 Dec 20;22(1):495. doi: 10.1186/s12883-022-03028-y.

本文引用的文献

1
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.
4
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.
5
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.
6
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.发热感染相关癫痫综合征的全外显子组和 HLA 测序。
Ann Clin Transl Neurol. 2020 Aug;7(8):1429-1435. doi: 10.1002/acn3.51062. Epub 2020 Jul 14.
7
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.
8
New onset refractory status epilepticus (NORSE).新起耐药性癫痫持续状态（NORSE）。
Seizure. 2019 May;68:72-78. doi: 10.1016/j.seizure.2018.09.018. Epub 2018 Sep 29.
9
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.新起难治性癫痫持续状态（NORSE）和热性感染相关癫痫综合征（FIRES）：现状与展望。
Epilepsia. 2018 Apr;59(4):745-752. doi: 10.1111/epi.14022. Epub 2018 Feb 24.
10
Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions.新起难治性癫痫持续状态（NORSE）、感染相关性癫痫综合征（FIRES）及相关情况的共识定义建议。
Epilepsia. 2018 Apr;59(4):739-744. doi: 10.1111/epi.14016. Epub 2018 Feb 5.