Neurons are particularly susceptible to microtubule (MT) defects and deregulation of the MT
cytoskeleton is considered to be a common insult during the pathogenesis of …

Lissencephaly ('smooth brain') is a severe brain disease associated with numerous
symptoms, including cognitive impairment, and shortened lifespan. The main causative …

Microtubules (MTs), highly dynamic structures composed of α-and β-tubulin heterodimers,
are involved in cell movement and intracellular traffic and are essential for cell division …

Malformations of cortical development (MCDs) are a group of severe brain malformations
associated with intellectual disability and refractory childhood epilepsy. Human missense …

The neuronal cytoskeleton performs incredible feats during nervous system development.
Extension of neuronal processes, migration, and synapse formation rely on the proper …

Tubulinopathies are rare neurological disorders caused by alterations in tubulin structure
and function, giving rise to a wide range of brain abnormalities involving neuronal …

We report a genomic and phenotypic delineation for two chromosome regions with
candidate genes for syndromic intellectual disability at 12q12 and Xp22. 31, segregating …

Microtubules play a critical role in multiple aspects of neurodevelopment, including the
generation, migration and differentiation of neurons. A recurrent mutation (R402H) in the α …

Background Malformations of cortical development comprise phenotypically heterogeneous
conditions, and the diagnostic value of genetic testing in blood still remains to be elucidated …

Mutations in cytoskeletal proteins can cause early infantile and childhood epilepsies by
misplacing newly born neurons and altering neuronal connectivity. In the adult epileptic …