Wang Di, Lu Di, Zhang Mingtai, Dai Anqi, Jin Guangyuan, Wang Qiao, Zhang Yuyang, Kahane Philippe
School of Engineering Medicine, Beihang University, Beijing, China.
Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China.
J Cent Nerv Syst Dis. 2024 Mar 5;16:11795735241237627. doi: 10.1177/11795735241237627. eCollection 2024.
Hypothalamic hamartomas (HHs) are congenital developmental malformations located in the hypothalamus. They are associated with a characteristic clinical manifestation known as gelastic seizures (GS). However, the traditional understanding of HHs has been limited, resulting in insufficient treatment options and high recurrence rates of seizures after surgery. This is consistent with the network hypothesis of focal epilepsy that the epileptogenic zone is not only limited to HH but may also involve the distant cerebral cortex external to the HH mass. The epilepsy network theory, on the other hand, provides a new perspective. In this study, we aim to explore HH-related epilepsy as a network disease, challenging the conventional notion of being a focal lesional disease. We analyze various aspects of HHs, including genes and signaling pathways, local circuits, the whole-brain level, phenotypical expression in terms of seizure semiology, and comorbidities. By examining HHs through the lens of network theory, we can enhance our understanding of the condition and potentially identify novel approaches for more effective management and treatment of epilepsy associated with HHs.
下丘脑错构瘤(HHs)是位于下丘脑的先天性发育畸形。它们与一种称为痴笑性癫痫(GS)的特征性临床表现相关。然而,对HHs的传统认识一直有限,导致治疗选择不足且术后癫痫复发率高。这与局灶性癫痫的网络假说一致,即致痫区不仅局限于HH,还可能涉及HH肿块外部的远处大脑皮层。另一方面,癫痫网络理论提供了一个新的视角。在本研究中,我们旨在将与HH相关的癫痫作为一种网络疾病进行探索,挑战其作为局灶性病变疾病的传统观念。我们分析HHs的各个方面,包括基因和信号通路、局部回路、全脑水平、癫痫发作症状学方面的表型表达以及合并症。通过从网络理论的角度研究HHs,我们可以加深对该疾病的理解,并有可能确定新的方法,以更有效地管理和治疗与HH相关的癫痫。