Hunter Senyene E., Jalazo Elizabeth, Felton Thomas R., Heinzen Erin L., Shiloh-Malawsky Yael
Department of Neurology, University of North Carolina at Chapel Hill, North Carolina, USA
Department of Pediatrics, University of North Carolina at Chapel Hill, North Carolina, USA
During the first decade of the 21 century, the landscape of epilepsy genetics started to take shape with the discovery of many new genes linked to epilepsy. These genetic discoveries advanced our understanding of the molecular and cellular pathways involved in epilepsy. Over the following ten years, the availability of clinical genetic testing along with rapidly growing knowledge of epilepsy genetics transformed patient care; most profoundly affecting management of childhood-onset epilepsies. This new genomic era offers great opportunities for the advancement of health outcomes and epilepsy research. It has also created new demands and challenges for physicians practicing in this rapidly evolving field, which requires specialized expertise in order to provide best care for patients and their families. This chapter reviews epilepsy genetics advancements and its impact on clinical practice.
在21世纪的第一个十年里,随着许多与癫痫相关的新基因被发现,癫痫遗传学的面貌开始形成。这些遗传学发现增进了我们对癫痫所涉及的分子和细胞途径的理解。在接下来的十年里,临床基因检测的可用性以及对癫痫遗传学的迅速增长的认识改变了患者护理;对儿童期癫痫的管理影响最为深远。这个新的基因组时代为改善健康结果和癫痫研究提供了巨大机遇。它也给在这个快速发展领域执业的医生带来了新的要求和挑战,这需要专业知识才能为患者及其家人提供最佳护理。本章回顾了癫痫遗传学的进展及其对临床实践的影响。