Auteurs
Gelot AB - Draia-Nicolau TO - Mathieu R - Silvagnoli L - Watrin F - Cardoso C - Manent JB - de Chevigny A - Represa A
Journal
Epilepsia
Abstract
Mutations in genes of the mTOR pathway have been identified as a major cause of hemimegalencephaly (HMG), focal cortical dysplasia type II, and tuberous sclerosis, cortical malformations associated with epilepsy. These conditions are characterized at the cellular level by increased size of pyramidal neurons that grow with dysmorphic features and in some cases by the presence of giant balloon cells. Our previous research in tuberous sclerosis has shown that parvalbumin (Pvalb) and calbindin immunoreactive cells in cortical and subcortical tuberal lesions show cytomegalic features, suggesting the involvement of GABAergic cells in mTOR-related pathologies. In the present report, we propose to deepen our understanding of the role of interneurons in mTOR-related cortical malformations by analyzing the maturation of Pvalb neurons in fetal samples of HMG.