Romina Romaniello
Italy
Review Article
Epilepsy in Multigene Tubulin Family Mutations
Author(s): Romina Romaniello and Renato BorgattiRomina Romaniello and Renato Borgatti
Mutations in α- and β-tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation, and axon guidance and maintenance. Motor and language developmental disorders, cognitive impairment and epilepsy are the main clinical associated symptoms. Frequency and severity of these disorders are largely related with the involvement of specific tubulin genes and their functions.
The present study summarizes all the published data on tubulin family gene mutations and the associated clinical phenotype in order to define epilepsy recurrence and its characteristics.
Mutations disrupting the stability of microtubules, mainly mechanisms involving neuronal migration and organization, may play an important role in epileptogenicity. Moreover, since mutations in the α- and β- tubulin gen.. View More»
