Ontology highlight
ABSTRACT:
SUBMITTER: Muhlebner A
PROVIDER: S-EPMC7559237 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Mühlebner Angelika A van Scheppingen Jackelien J de Neef Andrew A Bongaarts Anika A Zimmer Till S TS Mills James D JD Jansen Floor E FE Spliet Wim G M WGM Krsek Pavel P Zamecnik Josef J Coras Roland R Blumcke Ingmar I Feucht Martha M Scholl Theresa T Gruber Victoria-Elisabeth VE Hainfellner Johannes A JA Söylemezoğlu Figen F Kotulska Katarzyna K Lagae Lieven L Jansen Anna C AC Kwiatkowski David J DJ Jozwiak Sergiusz S Curatolo Paolo P Aronica Eleonora E
Journal of neuropathology and experimental neurology 20201001 10
Tuberous sclerosis complex (TSC) is a monogenetic disease that arises due to mutations in either the TSC1 or TSC2 gene and affects multiple organ systems. One of the hallmark manifestations of TSC are cortical malformations referred to as cortical tubers. These tubers are frequently associated with treatment-resistant epilepsy. Some of these patients are candidates for epilepsy surgery. White matter abnormalities, such as loss of myelin and oligodendroglia, have been described in a small subset ...[more]