Katy E Barwick

The paper establishes a humanized neuronal model to investigate the effects of manganese dysregulation on neuronal function and disease mechanisms.

This study identifies cardiac glycosides that restore autophagy and gene expression in an iPSC model of WDR45 deficiency, suggesting potential therapeutic applications for BPAN.

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.