In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy

Written By David Ritter

David M. Ritter, Paul S. Horn, and Katherine D. Holland

Pediatr Neurol. 2021 May;118:48-54.doi: 10.1016/j.pediatrneurol.2021.01.006.Epub 2021 Jan 27.

Study looking at models to predict KCNQ channel pathogenicity and their accuracy. We determined a modified algorithm that was both specific and sensitive for KCNQ related epilepsy.

https://www.sciencedirect.com/science/article/pii/S0887899421000072

David Ritter
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