In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy

Variants in KCNQ2 and KCNQ3 may cause benign neonatal familial seizures (BNFS) and early infantile epileptic encephalopathy (EIEE). 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.

Source: Pediatric Neurology - January 25, 2021 Category: Neurology Authors: David M. Ritter, Paul S. Horn, Katherine D. Holland Tags: Research Paper Source Type: research