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早发性小儿癫痫性脑病的当前治疗选择

Current Treatment Options for Early-Onset Pediatric Epileptic Encephalopathies.

作者信息

Shbarou Rolla

机构信息

Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, American University of Beirut, Cairo Street, Hamra, Beirut, Lebanon.

出版信息

Curr Treat Options Neurol. 2016 Oct;18(10):44. doi: 10.1007/s11940-016-0428-z.

DOI:10.1007/s11940-016-0428-z
PMID:27596103
Abstract

The management of early-onset, genetically determined epilepsies is often challenging. First-line anti-epileptic drugs (AEDs) often include phenobarbital, phenytoin, oxcarbazepine, carbamazepine, clonazepam, levetiracetam, and valproic acid. Combinations of medications are used in these patients with often intractable seizures, and they include topiramate, clobazam, felbamate, lacosamide, lamotrigine, rufinamide, vigabatrin, ACTH, oral steroids, and the ketogenic diet. Vagus nerve stimulator therapy offers some relief in selected patients. Surgical procedures, such as multiple subpial transections (MSTs), hemispherectomy, focal epilepsy surgery, or corpus callosotomy, may also be performed in selected patients. Careful monitoring of drug levels, if available, is highly recommended, as well as liver function tests, complete blood count, and electrolyte levels. AEDs often interact with each other, and the physician must be knowledgeable about such drug interactions, when selecting a new medication. In this article, the various encephalopathies are reviewed and presented according to age of onset of symptoms. Different treatment options are also summarized.

摘要

早发性、基因决定型癫痫的管理往往具有挑战性。一线抗癫痫药物(AEDs)通常包括苯巴比妥、苯妥英、奥卡西平、卡马西平、氯硝西泮、左乙拉西坦和丙戊酸。这些癫痫发作常难以控制的患者会使用联合药物治疗,包括托吡酯、氯巴占、非氨酯、拉科酰胺、拉莫三嗪、卢非酰胺、氨己烯酸、促肾上腺皮质激素、口服类固醇和生酮饮食。迷走神经刺激器疗法能为部分患者缓解症状。在部分患者中也可进行手术,如多处软膜下横切术(MSTs)、大脑半球切除术、局灶性癫痫手术或胼胝体切开术。若可行,强烈建议仔细监测药物水平,以及肝功能检查、全血细胞计数和电解质水平。AEDs之间常相互作用,医生在选择新药时必须了解此类药物相互作用。在本文中,将根据症状发作年龄对各种脑病进行综述和介绍。还将总结不同的治疗选择。

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De novo GABRA1 mutations in Ohtahara and West syndromes.大田原综合征和韦斯特综合征中的新发GABRA1突变。
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GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.GABRB3基因突变:早期婴儿癫痫性脑病的一个新的且日益凸显的病因。
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