Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.

Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies.
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DOI:
10.1111/j.1528-1167.2010.02734.x
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发表时间:
2011-01
期刊:
影响因子:
5.6
通讯作者:
Subaran R
Subaran R
中科院分区:
医学1区
文献类型:
--
作者:
Greenberg DA;Subaran R

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人们越来越认识到癫痫是一种远远超出癫痫发作范围的疾病。一半的癫痫患者患有认知和精神障碍,迄今为止,还没有针对这些症状的具体治疗方法。目前尚不清楚这些合并症中哪些是直接由癫痫发作引起的,哪些是由与潜在的发作活动独立、平行的机制引起的。突触调节的细胞和分子机制是癫痫发作和非发作变化的核心。当前的诊断方法正在迅速发展,以更好地描述发作活动的性质和程度,并且很快可能在识别认知和精神合并症的独特模式方面发挥关键作用。
Epilepsy is increasingly recognized as a disease that reaches well beyond seizures. Cognitive and psychiatric impairment afflict half of all epilepsy patients, and to date there are no specific treatments for these symptoms. It is unclear which of these comorbidities are directly due to seizures and which are due to separable, parallel mechanisms to those underlying ictal activity. Cellular and molecular mechanisms underlying synaptic modulation are central to both the ictal and non-ictal changes in epilepsy. Current diagnostic methods are rapidly advancing to better delineate the nature and extent of ictal activity, and could soon be critical in identifying patterns unique to the cognitive and psychiatric comorbidities.
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