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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

1
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
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.
Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27.
4
An incidental finding in prenatal exome sequencing-A case study and review of the clinical and ethical considerations.
Am J Med Genet A. 2023 Dec;191(12):2856-2859. doi: 10.1002/ajmg.a.63372. Epub 2023 Aug 14.
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Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111.
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Development and Validation of a Prediction Model for Early Diagnosis of -Related Epilepsies.
Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24.
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Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.
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