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2
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本文引用的文献

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A disease concept model for STXBP1-related disorders.STXBP1 相关性疾病的疾病概念模型。
Epilepsia Open. 2023 Jun;8(2):320-333. doi: 10.1002/epi4.12688. Epub 2023 Apr 27.
2
Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood.STXBP1-发育性和癫痫性脑病进入成年期的自然病史研究。
Neurology. 2022 Jul 19;99(3):e221-e233. doi: 10.1212/WNL.0000000000200715. Epub 2022 Jun 3.
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Epilepsy Course and Developmental Trajectories in -DEE.-DEE中的癫痫病程与发育轨迹
Neurol Genet. 2022 May 31;8(3):e676. doi: 10.1212/NXG.0000000000000676. eCollection 2022 Jun.
4
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.ILAE 新生儿和婴儿起病的癫痫综合征分类和定义：ILAE 分类和术语定义特别工作组的立场声明。
Epilepsia. 2022 Jun;63(6):1349-1397. doi: 10.1111/epi.17239. Epub 2022 May 3.
5
Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies.遗传性发育及癫痫性脑病的自然病史研究和临床试验准备
Neurotherapeutics. 2021 Jul;18(3):1432-1444. doi: 10.1007/s13311-021-01133-3. Epub 2021 Oct 27.
6
Clinical Trial Design for Disease-Modifying Therapies for Genetic Epilepsies.遗传性癫痫的疾病修饰疗法的临床试验设计。
Neurotherapeutics. 2021 Jul;18(3):1445-1457. doi: 10.1007/s13311-021-01123-5. Epub 2021 Sep 30.
7
Precision Medicine Approaches for Infantile-Onset Developmental and Epileptic Encephalopathies.婴儿期起病的发育性和癫痫性脑病的精准医学方法
Annu Rev Pharmacol Toxicol. 2022 Jan 6;62:641-662. doi: 10.1146/annurev-pharmtox-052120-084449. Epub 2021 Sep 27.
8
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.蛋白不稳定性、单倍不足和皮质过度兴奋是 STXBP1 脑病的基础。
Brain. 2018 May 1;141(5):1350-1374. doi: 10.1093/brain/awy046.
9
STXBP1 as a therapeutic target for epileptic encephalopathy.STXBP1作为癫痫性脑病的治疗靶点。
Expert Opin Ther Targets. 2017 Nov;21(11):1027-1036. doi: 10.1080/14728222.2017.1386175. Epub 2017 Oct 5.
10
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.STXBP1 脑病：一种包括癫痫在内的神经发育障碍。
Neurology. 2016 Mar 8;86(10):954-62. doi: 10.1212/WNL.0000000000002457. Epub 2016 Feb 10.

Responding to the Need of the Hour: Natural History Studies.

作者信息

Joshi Charuta

机构信息

Department of Pediatrics, The University of Texas Southwestern Medical Center.

出版信息

Epilepsy Curr. 2022 Nov 28;23(1):20-22. doi: 10.1177/15357597221135963. eCollection 2023 Jan-Feb.

DOI:10.1177/15357597221135963
PMID:36923343
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10009117/
Abstract
摘要