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与结节性硬化症相关的癫痫管理:临床建议。

Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations.

机构信息

Department of Neurosciences, Pediatric Neurology Unit, Tor Vergata University, via Montpellier 1, 00133 Rome, Italy.

出版信息

Eur J Paediatr Neurol. 2012 Nov;16(6):582-6. doi: 10.1016/j.ejpn.2012.05.004. Epub 2012 Jun 12.

DOI:10.1016/j.ejpn.2012.05.004
PMID:22695035
Abstract

Tuberous sclerosis complex (TSC) is a leading genetic cause of epilepsy. TSC-associated epilepsy generally begins during the first year of life, and is associated with neurodevelopmental and cognitive problems. Management is challenging and seizures tend to persist in a large proportion of patients despite pharmacological and surgical treatment. This report summarizes the clinical recommendations for the management of TSC-associated epilepsy made by a panel of European experts in March 2012. Current treatment options and outstanding questions are outlined.

摘要

结节性硬化症(TSC)是导致癫痫的主要遗传病因之一。TSC 相关的癫痫通常在出生后的第一年就开始发作,并伴有神经发育和认知问题。尽管进行了药物和手术治疗,癫痫仍难以控制,很大一部分患者的癫痫会持续存在。本报告总结了 2012 年 3 月一组欧洲专家就 TSC 相关癫痫的管理提出的临床建议。概述了当前的治疗选择和未解决的问题。

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Transl Pediatr. 2024 Jul 31;13(7):1190-1200. doi: 10.21037/tp-24-211. Epub 2024 Jul 29.
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Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.一般人群中的常见癫痫变异与结节性硬化症患者的癫痫无关。
Am J Med Genet A. 2024 Jun;194(6):e63569. doi: 10.1002/ajmg.a.63569. Epub 2024 Feb 17.
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Treatment-Resistant Epilepsy and Tuberous Sclerosis Complex: Treatment, Maintenance, and Future Directions.
难治性癫痫与结节性硬化症复合体:治疗、维持及未来方向
Neuropsychiatr Dis Treat. 2023 Apr 5;19:733-748. doi: 10.2147/NDT.S347327. eCollection 2023.
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Clinical seizure semiology is subtle and identification of seizures by parents is unreliable in infants with tuberous sclerosis complex.临床发作的表现细微,且父母识别婴儿结节性硬化症的发作并不可靠。
Epilepsia. 2023 Feb;64(2):386-395. doi: 10.1111/epi.17454. Epub 2022 Dec 4.
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Sex Differences in Autism Spectrum Disorder: Diagnostic, Neurobiological, and Behavioral Features.自闭症谱系障碍中的性别差异:诊断、神经生物学及行为特征
Front Psychiatry. 2022 May 13;13:889636. doi: 10.3389/fpsyt.2022.889636. eCollection 2022.
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