临床实践中的癫痫遗传学
Genetics of Epilepsy in Clinical Practice.
作者信息
Berkovic Samuel F
机构信息
Director, Epilepsy Research Centre, University of Melbourne, Heidelberg, Australia.
出版信息
Epilepsy Curr. 2015 Jul-Aug;15(4):192-6. doi: 10.5698/1535-7511-15.4.192.
Abstract
Genetics should now be part of everyday clinical epilepsy practice. Good data exist to provide empiric risks based on epilepsy syndrome diagnosis. Investigation of the molecular basis of some epilepsies is now a practical clinical task and is of clear value to the patient and family. In some cases, specific therapeutic decisions can now be made based on genetic findings, and this scenario of precision therapy is likely to increase in the coming years.
摘要
遗传学现在应该成为日常临床癫痫诊疗的一部分。现有充分的数据可基于癫痫综合征诊断提供经验性风险。对某些癫痫分子基础的研究现在是一项切实可行的临床任务，对患者及其家庭具有明确的价值。在某些情况下，现在可以根据基因检测结果做出具体的治疗决策，而且这种精准治疗的情况在未来几年可能会增加。
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