Edward C. Cooper

The paper uses molecular dynamics simulations to analyze the KCNQ2 G256W variant, revealing structural changes in the pore domain that disrupt ion selectivity and contribute to epileptic encephalopathy.

The paper investigates the molecular and cellular mechanisms of KCNQ2 encephalopathy through structural analysis, functional assays, and an animal model, revealing multiple pathogenic effects of the G256W variant.

The paper develops a Bayesian framework to integrate functional evidence into clinical variant interpretation for epilepsy-related ion channel genes, identifying key parameters that influence pathogenicity classification.

This study evaluates 79 KCNQ2 variants using automated patch clamp recording, revealing functional and pharmacological heterogeneity and genotype-dependent retigabine responses.

This study shows that removing KCNQ2 from parvalbumin-expressing interneurons enhances the anti-seizure efficacy of retigabine.