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Genetic variation can directly cause or increase susceptibility to neurological diseases. An explosion of new genetic technologies has enabled the characterization of specific genes responsible for many neurological 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 neurological diseases as well as more common, polygenic diseases that are encountered frequently in clinical practice.
This article was published in the following journal.
Name: The American journal of medicine
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