Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach.

ABSTRACT: Brain injuries are associated with oxidative stress and a need to restore neuronal homeostasis. Mutations in ion channel genes, in particular CACNA1A, have been implicated in familial hemiplegic migraine (FHM) and in the development of concussion-related symptoms in response to trivial head trauma. The aim of this study was to explore the potential role of variants in other ion channel genes in the development of such responses. We conducted whole exome sequencing (WES) on16 individuals who developed a range of neurological and concussion-related symptoms following minor or trivial head injuries. All individuals were initially tested and shown to be negative for mutations in known FHM genes. Variants identified from the WES results were filtered to identify rare variants (minor alle

SUBMITTER: Ibrahim O 

PROVIDER: S-EPMC7462038 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature