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儿童维生素反应性癫痫性脑病

Vitamin-responsive epileptic encephalopathies in children.

作者信息

Agadi Satish, Quach Michael M, Haneef Zulfi

机构信息

Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA ; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA ; Texas Children's Hospital, 6621 Fannin Street, CCC 1250.03, 12th Floor, Houston, TX 77030, USA.

出版信息

Epilepsy Res Treat. 2013;2013:510529. doi: 10.1155/2013/510529. Epub 2013 Jul 25.

DOI:10.1155/2013/510529
PMID:23984056
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3745849/
Abstract

Untreated epileptic encephalopathies in children may potentially have disastrous outcomes. Treatment with antiepileptic drugs (AEDs) often may not control the seizures, and even if they do, this measure is only symptomatic and not specific. It is especially valuable to identify potential underlying conditions that have specific treatments. Only a few conditions have definitive treatments that can potentially modify the natural course of disease. In this paper, we discuss the few such conditions that are responsive to vitamin or vitamin derivatives.

摘要

儿童未经治疗的癫痫性脑病可能会产生灾难性后果。使用抗癫痫药物(AEDs)进行治疗往往无法控制癫痫发作,即便能够控制,这种措施也只是对症治疗而非特异性治疗。识别具有特异性治疗方法的潜在基础疾病尤为重要。只有少数疾病有明确的治疗方法,有可能改变疾病的自然病程。在本文中,我们将讨论几种对维生素或维生素衍生物有反应的此类疾病。

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本文引用的文献

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Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.重新审视生物素反应性基底节疾病:临床、影像学和遗传学发现。
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Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".生物素酶缺乏症:“如果非得患上一种遗传性代谢疾病,那这种病就是最好的选择”。
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Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.吡哆醇依赖性癫痫伴抗坏血酸缺乏症:临床和分子特征及诊断、治疗和随访建议。
Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24.
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The neurology of biotinidase deficiency.生物素酶缺乏症的神经学表现。
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Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration.脑脊液中的吡哆醛 5'-磷酸;影响浓度的因素。
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