Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.

ABSTRACT:

Importance

Neuroinflammatory disorders are a range of severe neurological disorders causing brain and spinal inflammation and are now increasingly recognized in the pediatric population. They are often characterized by marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis.

Objective

To develop and evaluate a next-generation sequencing panel targeting genes causing neuroinflammation or mimicking neuroinflammation.

Design, setting, and participants

Cohort study in which a total of 257 genes associated with monogenic neuroinflammation and/or cerebral vasculopathy, including monogenic noninflammatory diseases mimicking these entities, were selected. A customized enrichment capture array, the neuroinflammat

SUBMITTER: McCreary D 

PROVIDER: S-EPMC6824223 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature