Rhys Huw Thomas

The paper examines associations between epilepsy-related polygenic risk scores and brain morphology in children, finding PRS-related cortical thinning linked to structural patterns in TLE-HS patients.

The paper identifies ultra-rare variants in GABAergic genes associated with genetic generalized epilepsy syndromes and links their functional impact to epilepsy severity.

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 paper identifies nuclear genetic factors modifying the clinical phenotype of m.3243A>G mitochondrial disease using genetic linkage analysis across 76 pedigrees.

The paper demonstrates an in vitro human brain model to study STXBP1 haploinsufficiency's effects on synaptic connectivity and cortical development.

This study identifies genetic loci associated with impulsivity in juvenile myoclonic epilepsy and links them to synaptic assembly genes and SLCO5A1 function.

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.

This study links structural network changes in epilepsy syndromes to risk gene expression patterns using ENIGMA data.

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

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

This study identifies network associations with atrophy patterns in epilepsy using neuroimaging and connectome analysis across 1,021 patients and 1,564 controls.