• Am. J. Med. · Feb 2019

    Review

    Introduction to Neurogenetics.

    • Angeliki Vgontzas and William Renthal.
    • Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Mass. Electronic address: avgontzas@bwh.harvard.edu.
    • Am. J. Med. 2019 Feb 1; 132 (2): 142-152.

    AbstractGenetic variation can directly cause or increase susceptibility to neurologic diseases. An explosion of new genetic technologies has enabled the characterization of specific genes responsible for many neurologic diseases and has provided fundamentally new insight into their pathophysiology. These advancements, along with recent breakthroughs in gene therapy, are beginning to result in the translation of an individual's genetic sequence into targeted treatment strategies. This review aims to introduce key genetic concepts and to illustrate how these principles apply in cases of rare, single-gene neurologic diseases as well as more common, polygenic diseases that are encountered frequently in clinical practice.Copyright © 2018. Published by Elsevier Inc.

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