癫痫的临床基因检测
Clinical Genetic Testing in Epilepsy.
作者信息
Mefford Heather C
机构信息
Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA.
出版信息
Epilepsy Curr. 2015 Jul-Aug;15(4):197-201. doi: 10.5698/1535-7511-15.4.197.
Abstract
New technologies for mutation detection in the human genome have greatly increased our understanding of epilepsy genetics. Application of genomic technologies in the clinical setting allows for more efficient genetic diagnosis in some patients; therefore, it is important to understand the types of tests available and the types of mutations that can be detected. Making a genetic diagnosis improves overall patient care by enhancing prognosis and recurrence risk counseling and informing treatment decisions.
摘要
人类基因组中突变检测的新技术极大地增进了我们对癫痫遗传学的理解。基因组技术在临床环境中的应用使得一些患者能够更高效地进行基因诊断；因此，了解可用的检测类型以及能够检测到的突变类型非常重要。进行基因诊断可通过加强预后和复发风险咨询以及为治疗决策提供信息来改善整体患者护理。
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