Erin L. Heinzen

This study identifies disrupted O-GalNAc glycosylation as a mechanism and biomarker for SLC35A2-associated epilepsy using mouse models and human tissue analysis.

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 investigates the functional impact of SLC35A2 loss of function variants on glycomic signatures, neuronal fate, and network dynamics using human induced pluripotent stem cell-derived neurons.

The paper identifies SPOUT1/CENP-32 as a causative gene for SpADMiSS, linking its dysfunction to mitotic spindle defects and neurodevelopmental disorders.

This study shows that disrupting Slc35a2 in mouse cortical neurons causes altered neuronal migration and reduced seizure threshold, contributing to MOGHE-like features.

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

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