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

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25 Oct 2026 0 comments

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 variants in two patients with generalized epilepsy in the gene CAMSAP3 . CAMSAP3 regulates non-centrosomal microtubule dynamics and the acetylation necessary for normal axonal...