Kira E. Jonatzke

Hyperthermic Seizure Susceptibility and Focal Decreases in Parvalbumin-Expressing Cortical Interneurons in a Mouse Model of PCDH19-Clustering Epilepsy

This study investigates a mouse model of PCDH19-clustering epilepsy, finding hyperthermia-induced seizures and reduced parvalbumin-expressing interneurons in specific brain regions.

Comprehensive assessment of recessive, pathogenic AARS1 alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects

The paper evaluates AARS1 variants in a humanized yeast model, finding loss-of-function effects and identifying a variant with both recessive and dominant-negative effects.

Predictive modeling provides insight into the clinical heterogeneity associated with TARS1 loss-of-function mutations

The paper investigates TARS1 loss-of-function mutations using engineered variants in yeast and mouse models, revealing new clinical phenotypes and heterogeneity.