The genetic contribution to the neurologic disease burden is wide ranging and ubiquitous. Most conspicuous are the distinctly mendelian disorders such as channelopathies, inherited ataxias, and inborn errors of metabolism; however, the contribution of genetics to common complex disorders such as cerebral palsy is increasingly evident.1 Furthermore, acquired conditions such as stroke, brain tumor, and central nervous system infections occur in the context of disparate genetic susceptibilities, and treatment of both inherited and acquired central nervous system disease can be influenced by a patient’s pharmacogenomic profile. Eighty-four percent of human genes are expressed in the human brain,2 so it comes as no surprise that neurologists have been early adopters of new genetic diagnosis modalities.
LePichon J, Saunders CJ, Soden SE. The Future of Next-Generation Sequencing in Neurology. JAMA Neurol. 2015;72(9):971–972. doi:10.1001/jamaneurol.2015.1076
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