结节性硬化
神经影像学
TSC1
癫痫
TSC2
医学
神经科学
心理学
精神科
生物化学
PI3K/AKT/mTOR通路
化学
细胞凋亡
作者
Xiao Chen,John S. Archer,Boris C. Bernhardt,Lorenzo Caciagli,Fernando Cendes,Yotin Chinvarun,Luis Concha,Paolo Federico,William D. Gaillard,Eliane Kobayashi,Godwin Ogbole,Stefan Rampp,Anna Elisabetta Vaudano,Irène Wang,Gavin P. Winston,Shuang Wang
摘要
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.
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