Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.

ABSTRACT:

Background

As one of the assembly factors of the GATOR1 protein complex in the mechanism of rapamycin pathway, NPRL3 plays an important role in the pathogenesis of epilepsy. However, the correlation between genotype and clinical phenotype in patients with NPRL3-related epilepsy has not been clarified.

Methods

A total of 11 Chinese children with NPRL3-related epilepsy were identified through whole-exome sequencing (WES). The data from the clinical presentation, laboratory data, brain imaging findings, genetic results, and treatment methods were collected. All previously reported cases with NPRL3-related epilepsy were collected and reviewed through PubMed search.

Results

Among the 11 children, eight have not been reported, and two of them presented

SUBMITTER: Zhang H 

PROVIDER: S-EPMC10018541 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature