Author

L. Smith

2 papers indexed here

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Open access Sep 2026

CAMSAP3 loss of function models suggest causative role in generalized genetic epilepsy

Advancements in next-generation sequencing have led to the discovery of hundreds of human epilepsy gene associations. Newly associated genes require functional validation to establish causation and to inform patient treatment in the clinic. A recent exome sequencing trio analysis identified predicted protein-altering v...

C. M. LaCoursiere, Zachary Stayn, Hannah Hepner et al. · bioRxiv · 0 citations

Open access Sep 2026

Clinical deep sequencing to diagnose pathogenic mosaic variants in malformations of cortical development and epilepsy

Background and Objectives: Deep sequencing of brain tissue in the research setting has established that mosaic variants are a major cause of malformations of cortical development (MCDs) and epilepsy. However, genetic testing in the clinical setting primarily detects germline variants using clinically accessible samples...

K. Stone, G. Prinzing, A. Lai et al. · medRxiv · 0 citations