Clinical and genetic spectrum of a large cohort of children with epilepsy in China.

ABSTRACT:

Purpose

Genetic diagnosis for children suffering from epilepsy has important implications for treatment, prognosis, and development of precision medicine strategies.

Methods

We performed exome sequencing (ES) or targeted sequencing on 733 children with epilepsy onset within the first year of life. We subgrouped our patients based on the onset age of seizure into neonatal and before 1 year (1-12 months), to compare the clinical and genetic features.

Results

The subgroups with different onset age of seizure showed different pathogenic variant spectrum, and the 1-year age group was more likely to have developmental delays than the neonate group (p = 0.000614). The diagnostic rate was 26.7% for targeted sequencing using a 2742-gene panel, and 42% for ES. We identified 12

SUBMITTER: Yang L 

PROVIDER: S-EPMC6681813 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature