Genomic biomarkers of SUDEP in brain and heart.
Genomic biomarkers of SUDEP in brain and heart.
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DOI：
10.1016/j.yebeh.2013.09.019
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发表时间：
2014-09
期刊：
影响因子：
--
通讯作者：
Glasscock E
中科院分区：
文献类型：
--
作者：
Glasscock E
癫痫猝死（Sudden unexpected death in epilepsy，SUDEP）是癫痫相关死亡的主要原因，但如何预测哪些患者处于危险之中以及如何预防仍然不确定。SUDEP的潜在病理机制在很大程度上仍然是未知的，但普遍的共识是癫痫发作以某种方式破坏了正常的心脏或呼吸生理，导致死亡。然而，SUDEP病例中心脏或呼吸功能障碍作为终末级联事件的关键因素的比例仍未得到解决。尽管已经确定了许多SUDEP的一般风险因素，但需要开发可靠的SUDEP患者特异性生物标志物，以提供更准确的风险预测和个性化的患者管理策略。在动物模型和患者群体中的研究已经揭示了至少九种不同的脑-心基因，这些基因可能有助于SUDEP的遗传易感性，使它们成为潜在的基因组生物标志物。本文综述了这些神经心脏基因与SUDEP之间的关系，讨论了它们在小鼠模型和癫痫患者中的脑-心表达模式和基因型-表型相关性。这些神经心脏基因代表了在未来研究中作为SUDEP的基因组生物标志物进行评估的良好的第一候选者。开发经验证的可靠的SUDEP基因组生物标志物有可能通过精确定位有SUDEP风险的患者并允许优化的基因型指导的治疗和预防策略来改变癫痫的临床治疗。
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related mortality, but how to predict which patients are at risk and how to prevent it remains uncertain. The underlying pathomechanisms of SUDEP are still largely unknown but the general consensus is that seizures somehow disrupt normal cardiac or respiratory physiology leading to death. However, the proportion of SUDEP cases exhibiting cardiac or respiratory dysfunction as a critical factor in the terminal cascade of events remains unresolved. Although many general risk factors for SUDEP have been identified, the development of reliable patient-specific biomarkers for SUDEP is needed to provide more accurate risk prediction and personalized patient management strategies. Studies in animal models and patient groups have revealed at least nine different brain-heart genes that may contribute to a genetic susceptibility for SUDEP, making them potentially useful as genomic biomarkers. This review summarizes data on the relationship between these neurocardiac genes and SUDEP, discussing their brain-heart expression patterns and genotype-phenotype correlations in mouse models and people with epilepsy. These neurocardiac genes represent good first candidates for evaluation as genomic biomarkers of SUDEP in future studies. The development of validated reliable genomic biomarkers for SUDEP has the potential to transform the clinical treatment of epilepsy by pinpointing patients at risk of SUDEP and allowing optimized, genotype-guided therapeutic and prevention strategies.
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影响因子：
30.8
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