Functional analysis of a novel de novo SCN2A variant in a patient with seizures refractory to oxcarbazepine.

ABSTRACT:

Objective

We admitted a female patient with infantile onset epilepsy (<3-month-old). The use of oxcarbazepine exacerbated epileptic seizures in the patient. In the present study, we aimed to identify the genetic basis of the infantile onset epilepsy in the patient, and determine the correlations among genotype, phenotype, and clinical drug response.

Methods

We described the clinical characteristics of an infant with refractory epilepsy. Whole exome sequencing (WES) was used to screen for the pathogenic variant. Whole-cell patch-clamp was performed to determine functional outcomes of the variant.

Results

WES identified a novel de novo SCN2A variant (c.468 G > C, p.K156N) in the patient. In comparison with wildtype, electrophysiology revealed that SCN2A-K1

SUBMITTER: Hu X 

PROVIDER: S-EPMC10158977 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature