Clinical Study of 30 Novel KCNQ2 Variants/Deletions in KCNQ2-Related Disorders.

ABSTRACT:

Background

KCNQ2-related disorder is typically characterized as neonatal onset seizure and epileptic encephalopathy. The relationship between its phenotype and genotype is still elusive. This study aims to provide clinical features, management, and prognosis of patients with novel candidate variants of the KCNQ2 gene.

Methods

We enrolled patients with novel variants in the KCNQ2 gene from the China Neonatal Genomes Project between January 2018 and January 2021. All patients underwent next-generation sequencing tests and genetic data were analyzed by an in-house pipeline. The pathogenicity of variants was classified according to the guideline of the American College of Medical Genetics. Each case was evaluated by two geneticists back to back. Patients' in

SUBMITTER: Xiao T 

PROVIDER: S-EPMC9088225 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature