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Catastrophic Epilepsies of Childhood
Annual Review of Neuroscience ( IF 13.9 ) Pub Date : 2017-08-03 00:00:00 , DOI: 10.1146/annurev-neuro-072116-031250
MacKenzie A. Howard 1 , Scott C. Baraban 2
Affiliation  

The tragedy of epilepsy emerges from the combination of its high prevalence, impact upon sufferers and their families, and unpredictability. Childhood epilepsies are frequently severe, presenting in infancy with pharmaco-resistant seizures; are often accompanied by debilitating neuropsychiatric and systemic comorbidities; and carry a grave risk of mortality. Here, we review the most current basic science and translational research findings on several of the most catastrophic forms of pediatric epilepsy. We focus largely on genetic epilepsies and the research that is discovering the mechanisms linking disease genes to epilepsy syndromes. We also describe the strides made toward developing novel pharmacological and interventional treatment strategies to treat these disorders. The research reviewed provides hope for a complete understanding of, and eventual cure for, these childhood epilepsy syndromes.

中文翻译:


童年的灾难性癫痫

癫痫的悲剧源于其高患病率,对患者及其家人的影响以及不可预测性。儿童癫痫病通常很严重,在婴儿期出现耐药性癫痫发作。常常伴有使神经精神疾病和全身性疾病虚弱的现象;并带来严重的死亡风险。在这里,我们回顾了有关小儿癫痫的几种最灾难性形式的最新基础科学和转化研究结果。我们主要关注遗传性癫痫和正在发现将疾病基因与癫痫综合症联系起来的机制的研究。我们还描述了在开发新的药理学和介入治疗策略以治疗这些疾病方面所取得的进步。所审查的研究为全面了解,

更新日期:2017-08-03
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