Specific pattern of maturation and differentiation in the formation of cortical tubers in tuberous sclerosis omplex (TSC): evidence from layer-specific marker expression

Muhlebner A., Iyer A. M., van Scheppingen J., Anink J. J., Jansen F. E., Veersema T. J., ...More

JOURNAL OF NEURODEVELOPMENTAL DISORDERS, vol.8, 2016 (SCI-Expanded) identifier identifier


Background: Tuberous sclerosis complex (TSC) is a multisystem disorder that results from mutations in the TSC1 or TSC2 genes, leading to constitutive activation of the mammalian target of rapamycin (mTOR) signaling pathway. Cortical tubers represent typical lesions of the central nervous system (CNS) in TSC. The pattern of cortical layering disruption observed in brain tissue of TSC patients is not yet fully understood, and little is known about the origin and phenotype of individual abnormal cell types recognized in tubers.