Clinical analysis of CHD2 gene mutations in pediatric patients with epilepsy.

ABSTRACT:

Importance

CHD2 is a member of the chromodomain helicase DNA-binding (CHD) family of proteins, which have important roles in the regulation of gene expression. Dysregulation of this protein may lead to various disorders.

Objective

To delineate the genotypes and phenotypes of CHD2-related epilepsy.

Methods

We analyzed the medical history, magnetic resonance imaging findings, and video-electroencephalogram recordings of 17 patients with CHD2 mutations in the Neurology Department of Beijing Children's Hospital from June 2016 to June 2021.

Results

Age at seizure onset ranged from 6 months to 10 years; the median age at onset was 4 years. Generalized tonic-clonic, myoclonic, eyelid myoclonic, atonic, atypical absence, myoclonic-atonic, and spasm seizures were

SUBMITTER: Feng W 

PROVIDER: S-EPMC9218986 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature