Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy.

ABSTRACT:

Background

Developmental and epileptic encephalopathy (DEE) is a condition characterized by severe seizures and a range of developmental impairments. Pathogenic variants in KCNQ2, encoding for potassium channel subunit, cause KCNQ2-related DEE. This study aimed to examine the relationships between genotype and phenotype in KCNQ2-related DEE.

Methods

In total, 12 patients were enrolled in this study for genetic testing, clinical analysis, and developmental evaluation. Pathogenic variants of KCNQ2 were characterized through a whole-cell electrophysiological recording expressed in Chinese hamster ovary (CHO) cells. The expression levels of the KCNQ2 subunit and its localization at the plasma membrane were determined using Western blot analysis.

Results</

SUBMITTER: Ye J 

PROVIDER: S-EPMC10366601 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature