Neuronal connectivity in Tuberous Sclerosis Complex and related mTORopathies.

ICNC2024
Symposia: Epilepsy As A Brain Network Disease: Implications For The Clinician

Neuronal connectivity in Tuberous Sclerosis Complex and related mTORopathies.
Darcy Krueger

In tuberous sclerosis complex (TSC), disrupted early brain development at the cellular level leads to aberrant neural connections and neurologic disorders such as epilepsy, autism spectrum disorder, and intellectual disabilities. Overactivation of the mechanistic target of rapamycin pathway causes abnormalities in cell growth, differentiation, and migration, which result in the formation of macroscopic lesions in the brain, such as tubers, radial migration lines, and subependymal nodules. Tubers are potentially epileptogenic, and approximately 50% of children with TSC develop infantile spasms. The pathophysiology of focal lesions leading to epileptic spasms is currently unknown. It is possible, however, that infantile spasms are the result of injury to a particular network, as opposed to dysfunction of a single region. Lesion network mapping identifies the network of brain regions connected to each lesion location using a normative map of functional connectivity. Connectivity between tuber locations and the bilateral globi pallidi may be associated with the development of infantile spasms in TSC patients.

Other Lectures in this symposium:
Brain connectivity with EEG and neuroradiologic modalities in developmental epileptic encephalopathy with spike-and-wave activation in sleep
Neuronal connectivity in self-limited epilepsy with centrotemporal spikes
Epilepsy as a network disease