Previously defined variants of uncertain significance may play an important role in epilepsy and interactions between certain variants may become pathogenic.

ABSTRACT:

Objective

Epilepsy is a chronic neurological disorder related to various etiologies, and the prevalence of active epilepsy is estimated to be between 4 and 10 per 1000 individuals having a significant role in genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, but a substantial proportion of the results remain uncertain and are not considered directly causative of epilepsy. This study aimed to reevaluate pediatric patients diagnosed with epilepsy who underwent genetic investigation using NGS panels, focusing on inconclusive variant findings or multiple variants of uncertain significance (VUSs).

Methods

A subgroup of pediatric patients aged 0-25 years, diagnosed with epilepsy, who underwent genetic investigation with an NGS epilepsy pa

SUBMITTER: Hussein Y 

PROVIDER: S-EPMC11633689 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature