In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy.

ABSTRACT:

Background

Variants in KCNQ2 and KCNQ3 may cause benign neonatal familial seizures and early infantile epileptic encephalopathy. Previous reports suggest that in silico models cannot predict pathogenicity accurately enough for clinical use. Here we sought to establish a model to accurately predict the pathogenicity of KCNQ2 and KCNQ3 missense variants based on available in silico prediction models.

Methods

ClinVar and gnomAD databases of reported KCNQ2 and KCNQ3 missense variants in patients with neonatal epilepsy were accessed and classified as benign, pathogenic, or of uncertain significance. Sensitivity, specificity, and classification accuracy for prediction of pathogenicity were determined and compared for 10 widely used prediction algorithms program. A mathematical mod

SUBMITTER: Ritter DM 

PROVIDER: S-EPMC8076079 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature