The Challenge of Somatic Variants in Focal Cortical Dysplasia.

ABSTRACT:

Objective

The advent of next-generation sequencing (NGS) enabled the detection of low-level brain somatic variants in postsurgical tissue of focal cortical dysplasia (FCD). The genetic background of FCD Type I remains elusive, while the mammalian target of rapamycin (mTOR) pathway seems to have a relevant role in the pathogenesis of FCD Type II. Our goal was to uncover information on the molecular basis of FCD, performing whole genome sequencing (WGS) in postsurgical tissue to detect candidate brain-specific somatic variants, and evaluate their clinical significance.

Design

WGS was performed using paired peripheral venous blood and postsurgical pathological brain deoxyribonucleic acid (DNA) samples. Libraries were prepared using the Roche KAPA HyperPrep polymerase chain reac

SUBMITTER: Jesus-Ribeiro J 

PROVIDER: S-EPMC10773600 | biostudies-literature | 2023 Oct-Dec

REPOSITORIES: biostudies-literature