ESPE Abstracts

Background: Microtubules, polar polymers of αβ-tubulin heterodimers, constitute dynamic cytoskeletal structures implicated in the regulation of axonal activity along with neuronal proliferation and migration. Tubulinopathies, caused by pathogenic variants in genes encoding different isotypes of tubulin, lead to a wide and overlapping range of nervous system malformations and neurodevelopmental disorders. Namely, heterozygous missense and nonsense mu...