Article

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

2023-08-15

Abstract excerpt

<h4>Objective</h4> Epilepsy is a chronic neurological disorder related to various etiologies and the prevalence of active epilepsy is estimated to be between 4-10 per 1000 individuals having a significant role of genetic mutations. Next-Generation Sequencing (NGS) panels are utilized for genetic testing, still, a substantial proportion of the results remain uncertain and are not considered directly causative of ep...

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Literature Corpus work: 59b92d4a-c3e0-5c56-b92e-439ea6fcaa06
DOI: 10.1101/2023.08.10.23293930

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