Next-Generation Sequencing in Korean Children With Autism Spectrum Disorder and Comorbid Epilepsy.

ABSTRACT: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social communication and restricted and repetitive behaviors and interests. Identifying the genetic background may be one of the key features for the future diagnosis and treatment of ASD. With the tremendous development in genetic diagnosis techniques, next-generation sequencing (NGS) can be used to analyze multiple genes simultaneously with a single test in laboratory and clinical settings and is well suited for investigating autism genetics. According to previous studies, there are two types of genetic variants in ASD, rare variants and common variants, and both are important in explaining pathogenesis. In this study, NGS data from 137 participants with ASD were reviewed retrospectively with

SUBMITTER: Lee J 

PROVIDER: S-EPMC7240034 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature