Leanne M. Dibbens

This study evaluates IUPAC consensus references for improving variant detection in challenging genomic regions using a stratified benchmarking framework called BurdenBench.

This study identifies two existing drugs that reduce KCNT1 channel activity and seizure activity in Drosophila models, suggesting potential new treatments for KCNT1-epilepsy.

This study models human KCNT1-epilepsy in Drosophila by expressing patient mutations and shows drug responses, demonstrating the utility of Drosophila as a model for assessing treatments.