From All to One: Can a Large Cohort of Individuals with SCN1A-Related Epilepsy Offer Predictions for Other Individuals With SCN1A Variants?
作者信息
Gerard Elizabeth E
机构信息
Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
出版信息
Epilepsy Curr. 2025 Apr 30:15357597251333279. doi: 10.1177/15357597251333279.
Abstract
摘要
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本文引用的文献
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Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.探讨多基因背景对“单基因”家族中癫痫表型的影响。
EBioMedicine. 2024 Nov;109:105404. doi: 10.1016/j.ebiom.2024.105404. Epub 2024 Oct 30.
2
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.1018例与SCN1A相关癫痫患者的基因型-表型关联
Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27.
3
Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.严重的沟通延迟与癫痫发作负担无关，且在SCN1A+型德雷维特综合征中，尽管采用了现代治疗方法，这种延迟仍然存在：来自ENVISION自然史研究的见解。
Epilepsia. 2024 Feb;65(2):322-337. doi: 10.1111/epi.17850. Epub 2023 Dec 22.
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An incidental finding in prenatal exome sequencing-A case study and review of the clinical and ethical considerations.产前外显子组测序中的偶然发现——一项病例研究及临床与伦理考量综述
Am J Med Genet A. 2023 Dec;191(12):2856-2859. doi: 10.1002/ajmg.a.63372. Epub 2023 Aug 14.
5
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.广泛性基因组对 Dravet 综合征表型的影响，一种“单基因”疾病。
Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111.
6
Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.全外显子测序和共表达分析鉴定出 SCN1A 变异，该变异可改变遗传性癫痫伴热性惊厥附加症家系的致病性。
Epilepsia. 2022 Aug;63(8):1970-1980. doi: 10.1111/epi.17296. Epub 2022 Jun 5.
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Development and Validation of a Prediction Model for Early Diagnosis of -Related Epilepsies.开发和验证用于早期诊断相关癫痫的预测模型。
Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24.
8
Gabra2 is a genetic modifier of Dravet syndrome in mice.Gabra2 是小鼠 Dravet 综合征的遗传修饰因子。
Mamm Genome. 2021 Oct;32(5):350-363. doi: 10.1007/s00335-021-09877-1. Epub 2021 Jun 4.
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A single-center, retrospective analysis of genotype-phenotype correlations in children with Dravet syndrome.一项单中心回顾性分析杜氏肌营养不良症患儿基因型-表型相关性的研究。
Seizure. 2020 Feb;75:1-6. doi: 10.1016/j.seizure.2019.12.009. Epub 2019 Dec 13.
10
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.与 SCN1A 基因内基因缺失相关的可变癫痫表型。
Epilepsia. 2010 Dec;51(12):2474-7. doi: 10.1111/j.1528-1167.2010.02790.x. Epub 2010 Nov 18.
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