Stefan Wolking

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.

This study models AP2M1-DEE in Drosophila, finding heat-sensitive paralysis, altered neuron morphology, and seizure resistance, suggesting developmental defects over synaptic dysfunction.

This paper predicts drug response in epilepsy using multi-task gradient-boosted trees, identifying key genomic and clinical features that influence treatment outcomes.

This study analyzes human dendritic spine morphology and density using a unique dataset and deep learning, revealing sex and tissue-specific differences and changes over time in culture.

This study assesses CNV burden and segregation in epilepsy patients and controls, finding enrichment of large deletions in genetic generalized epilepsies but no support for unmasked variants or double CNVs explaining incomplete penetrance.

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

The paper calculates polygenic risk scores for epilepsy subtypes in a French-Canadian cohort and finds they provide reliable genetic contribution estimates, though clinical use requires further study.

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