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儿童癫痫性脑病的诊断与管理

Diagnosis and management of epileptic encephalopathies in children.

作者信息

Jain Puneet, Sharma Suvasini, Tripathi Manjari

机构信息

Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110029, India.

出版信息

Epilepsy Res Treat. 2013;2013:501981. doi: 10.1155/2013/501981. Epub 2013 Jul 22.

DOI:10.1155/2013/501981
PMID:23970964
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3736403/
Abstract

Epileptic encephalopathies refer to a group of disorders in which the unremitting epileptic activity contributes to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone, and these can worsen over time leading to progressive cerebral dysfunction. Several syndromes have been described based on their electroclinical features (age of onset, seizure type, and EEG pattern). This review briefly describes the clinical evaluation and management of commonly encountered epileptic encephalopathies in children.

摘要

癫痫性脑病是指一组疾病,其中持续的癫痫活动导致严重的认知和行为障碍,超出了仅由潜在病理所预期的程度,并且这些障碍会随着时间的推移而恶化,导致进行性脑功能障碍。根据其电临床特征(发病年龄、癫痫发作类型和脑电图模式)已描述了几种综合征。本综述简要描述了儿童常见癫痫性脑病的临床评估和管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/fe132dcd3b9c/ERT2013-501981.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/bdaa014a4fa3/ERT2013-501981.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/fc110a761326/ERT2013-501981.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/ae156e3b7acb/ERT2013-501981.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/fe132dcd3b9c/ERT2013-501981.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/bdaa014a4fa3/ERT2013-501981.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/fc110a761326/ERT2013-501981.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/ae156e3b7acb/ERT2013-501981.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47bb/3736403/fe132dcd3b9c/ERT2013-501981.004.jpg

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1
Magnetoencephalography localizing spike sources of atypical benign partial epilepsy.脑磁图定位非典型良性部分性癫痫的棘波源
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2
Genetic testing of epileptic encephalopathies of infancy: an approach.婴儿癫痫性脑病的基因检测:一种方法。
Can J Neurol Sci. 2013 Jan;40(1):10-6. doi: 10.1017/s0317167100012889.
3
Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome).早期婴儿癫痫性脑病(大田原综合征)的癫痫手术
患者新型纯合功能丧失变异. 的临床、放射学和遗传学特征。
Genes (Basel). 2022 Nov 30;13(12):2252. doi: 10.3390/genes13122252.
4
Nordic treatment guidelines for rare epileptic conditions: A literature review.北欧罕见癫痫疾病治疗指南:文献回顾。
Brain Behav. 2022 Jul;12(7):e2622. doi: 10.1002/brb3.2622. Epub 2022 Jun 28.
5
Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.人类 ROBO1 中的新型显性和隐性变异通过不同机制导致明显的神经发育缺陷。
Hum Mol Genet. 2022 Aug 23;31(16):2751-2765. doi: 10.1093/hmg/ddac070.
6
Treatment Guidelines for Rare, Early-Onset, Treatment-Resistant Epileptic Conditions: A Literature Review on Dravet Syndrome, Lennox-Gastaut Syndrome and CDKL5 Deficiency Disorder.罕见早发性难治性癫痫病症的治疗指南:关于德雷维特综合征、伦诺克斯-加斯东综合征和CDKL5缺乏症的文献综述
Front Neurol. 2021 Oct 25;12:734612. doi: 10.3389/fneur.2021.734612. eCollection 2021.
7
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).外显子组和基因组测序用于患有先天畸形或智力障碍的儿科患者:美国医学遗传学与基因组学学会(ACMG)的循证临床指南。
Genet Med. 2021 Nov;23(11):2029-2037. doi: 10.1038/s41436-021-01242-6. Epub 2021 Jul 1.
8
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J Orthop Case Rep. 2019;9(5):35-38. doi: 10.13107/jocr.2250-0685.1522.
9
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.氧化应激:罕见病与神经退行性疾病的交叉点
Antioxidants (Basel). 2020 Apr 15;9(4):313. doi: 10.3390/antiox9040313.
10
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.系统循证综述:外显子组和基因组测序对先天性畸形或智力障碍儿科患者的结果。
Genet Med. 2020 Jun;22(6):986-1004. doi: 10.1038/s41436-020-0771-z. Epub 2020 Mar 23.
J Child Neurol. 2013 Dec;28(12):1607-17. doi: 10.1177/0883073812464395. Epub 2012 Nov 8.
4
Epileptic encephalopathies in infants and children.婴儿和儿童的癫痫性脑病。
J Clin Neurophysiol. 2012 Oct;29(5):420-4. doi: 10.1097/WNP.0b013e31826bd961.
5
Corticosteroids for the treatment of infantile spasms: a systematic review.用于治疗婴儿痉挛症的皮质类固醇:一项系统评价
J Child Neurol. 2012 Oct;27(10):1284-8. doi: 10.1177/0883073812453203. Epub 2012 Aug 1.
6
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Eur J Paediatr Neurol. 2012 Sep;16 Suppl 1:S13-7. doi: 10.1016/j.ejpn.2012.04.009. Epub 2012 Jun 12.
7
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.PLCB1 基因纯合缺失导致婴儿期恶性游走性部分性癫痫发作。
Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12.
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Neurology. 2012 Jun 12;78(24):1974-80. doi: 10.1212/WNL.0b013e318259e2cf.
9
Efficacy of the ketogenic diet in Lennox-Gastaut syndrome: a retrospective review of one institution's experience and summary of the literature.生酮饮食治疗 Lennox-Gastaut 综合征的疗效:一家机构的回顾性研究及文献综述
Dev Med Child Neurol. 2012 May;54(5):464-8. doi: 10.1111/j.1469-8749.2012.04233.x. Epub 2012 Mar 22.
10
Therapy of encephalopathy with status epilepticus during sleep (ESES/CSWS syndrome): an update.治疗睡眠中伴有癫痫持续状态的脑病(ESES/CSWS 综合征):最新进展。
Epileptic Disord. 2012 Mar;14(1):1-11. doi: 10.1684/epd.2012.0482.