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PMID: 40824683 Published · ppublish English

ILAE neuroimaging task force highlight: Tuberous sclerosis complex-related epilepsy.

Chen X, Archer J, Bernhardt BC, Caciagli L, Cendes F, Chinvarun Y, Concha L, Federico P, Gaillard WD, Kobayashi E, Ogbole G, Rampp S, Vaudano AE, Wang ZI, Winston GP, Wang S

Abstract

The ILAE Neuroimaging Task Force publishes educational case reports that highlight basic aspects of neuroimaging in epilepsy consistent with the ILAE's educational mission. Tuberous sclerosis complex (TSC) is a rare, complex, and multisystem autosomal dominant genetic disorder that arises from variations in the TSC1 or TSC2 genes. While characterized by a wide range of clinical manifestations, TSC commonly presents with epilepsy, which is a clinically challenging feature of the condition. Neuroimaging plays a pivotal role in the early diagnosis, screening, and long-term monitoring of TSC patients. CT serves as the first-line imaging tool in emergency settings; yet MRI is the primary diagnostic modality for TSC. In this report, we present two patients with TSC-related epilepsy and analyze their neuroimaging findings. We also address the diagnostic and therapeutic challenges faced by TSC patients with epilepsy.

Keywords
epilepsy neuroimaging tuberous sclerosis complex
Article Info
Journal
Epileptic disorders : international epilepsy journal with videotape
Abbr.
Epileptic Disord
ISSN
1950-6945
Published
2025-12-00
Language
English
Country/Region
United States
NLM ID
100891853
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