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Open access Sep 2026

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

It is shown that overexpression of patient variants leads to protein degradation and dysregulation of microtubule acetylation in cultured HEK cells, and this data suggest that CAMSAP3 plays an important role in genetic generalized epilepsy.

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

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