SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.

ABSTRACT:

Background

Recessive SZT2 variants are reported to be associated with developmental and epileptic encephalopathy 18 (DEE-18) and occasionally neurodevelopment abnormalities (NDD) without seizures. This study aims to explore the phenotypic spectrum of SZT2 and the genotype-phenotype correlation.

Methods

Trios-based whole-exome sequencing was performed in patients with epilepsy. Previously reported SZT2 mutations were systematically reviewed to analyze the genotype-phenotype correlations.

Results

SZT2 variants were identified in six unrelated cases with heterogeneous epilepsy, including one de novo null variant and five pairs of biallelic variants. These variants had no or low frequencies in controls. All missense variants were predict

SUBMITTER: Luo S 

PROVIDER: S-EPMC10198435 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature