Sophie F. Hill

Epilepsy and premature mortality driven by inhibitory neuron dysfunction in a mouse model of SCN1A gain-of-function neurodevelopmental disorder

This study develops a mouse model of SCN1A gain-of-function epilepsy and shows that inhibitory neuron dysfunction drives seizures and premature mortality.

Developmental dysregulation of chandelier cell excitability in a mouse model of Dravet Syndrome

This study examines chandelier cell excitability in Dravet Syndrome mice, finding impaired excitability in juvenile and adult stages, distinct from basket cells.

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology

This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.

Attenuated ectopic action potential firing in parvalbumin expressing interneurons in a mouse model of Dravet Syndrome

The paper investigates EAP firing in PVINs from Dravet syndrome mice and finds reduced EAP frequency compared to wildtype controls.