Patrick Kwan

This study identifies somatic Ras-MAPK pathway variants in hippocampal tissue from patients with drug-resistant epilepsy, showing their association with clonal competition and worse surgical outcomes.

The paper investigates how genetic variants affecting transcription factor binding contribute to valproate-induced birth defects and identifies EP300 as a key regulator involved in this process.

The paper compares four automated MRI segmentation methods for epilepsy resection cavities to manual segmentation, finding SPM-based methods outperform deep learning approaches in most cases.

This study examines age-related changes in grey and white matter in TLE patients across the adult lifespan, finding accelerated aging effects after age 55.

This study identifies divergent patterns of atypical cortical asymmetry and regional atrophy in temporal lobe epilepsy using MRI data from a large multi-site cohort.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

The paper identifies microglial activation as a factor contributing to cortical thinning in epilepsy by integrating neuroimaging and gene expression data.

The paper improves HLA-based prediction of coeliac disease by identifying two novel risk modifiers, DQ6.2 and DQ7.3, and develops a new risk score with better predictive performance.

This study identifies white matter microstructural differences across epilepsy syndromes using diffusion MRI data from a large multicenter cohort.

The paper evaluates abbreviated versions of the SCL-90-R for psychopathology assessment in seizure disorder patients, finding high validity for depression and anxiety but poor performance for psychosis and obsessive-compulsive symptoms.

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.