The Future of Next-Generation Sequencing in Neurology.

Creator(s)

Jean-Baptiste LePichon, Children's Mercy HospitalFollow
Carol J. Saunders, Children's Mercy HospitalFollow
Sarah E. Soden, Children's Mercy HospitalFollow

Document Type

Article

Publication Date

9-1-2015

Identifier

DOI: 10.1001/jamaneurol.2015.1076

Abstract

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.

Journal Title

JAMA Neurol

Volume

72

Issue

9

First Page

971

Last Page

972

MeSH Keywords

Genetic Testing; Humans; Nervous System Diseases; Neurology

Keywords

Genetic Testing; Nervous System Diseases; Neurology

Comments

Grant support

• U19HD077693/HD/NICHD NIH HHS/United States

Recommended Citation

LePichon JB, 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