Department of Neurology, Neurological Institute, Columbia University Medical Center, Columbia University, New York, New York 10032, USA.
Pediatr Neurol. 2011 May;44(5):317-27. doi: 10.1016/j.pediatrneurol.2011.01.017.
The contributions of genetic influences in both rare and common epilepsies are rapidly being elucidated, and neurologists routinely consider genetic testing in the workup of numerous epilepsy syndromes. Trends in patient attitudes and developments in clinical molecular diagnostics will increase interest in, and the availability of genetic tests for, genetic evaluations of epilepsies. We review recent and planned developments in clinical genetic testing platforms, including their indications, strengths, and limitations. We discuss genome-wide microarray methods (i.e., methods to detect copy number variations), karyotypes, and sequence-based testing. We outline the general approach to genetic evaluations of epilepsy, emphasizing the importance of clinical evaluations, and provide online clinical resources. Finally, we present potential social, legal, and financial barriers to genetic evaluations, and discuss concerns regarding clinical utility and recurrence risk. This review provides a practical overview of molecular diagnostics for the neurologist in the genetic evaluation of epilepsies in 2011.
遗传因素在罕见和常见癫痫中的作用正在迅速阐明，神经科医生在许多癫痫综合征的评估中常规考虑进行基因检测。患者态度的趋势和临床分子诊断学的发展将增加对癫痫遗传评估的兴趣，并提供遗传检测。我们回顾了临床基因检测平台的最新和计划中的发展，包括它们的适应证、优势和局限性。我们讨论了全基因组微阵列方法（即检测拷贝数变异的方法）、核型和基于序列的检测。我们概述了癫痫遗传评估的一般方法，强调了临床评估的重要性，并提供了在线临床资源。最后，我们提出了遗传评估可能存在的社会、法律和经济障碍，并讨论了对临床效用和复发风险的担忧。这篇综述为 2011 年神经科医生在癫痫遗传评估中进行分子诊断提供了实用概述。
