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.
Keywords: Hypothalamic hamartomas; epileptic network; seizure; semiology.
Hypothalamic hamartomas (HHs) are unusual brain malformations present from birth in the hypothalamus region. They often lead to a distinctive type of seizures known as GSs. However, our current understanding of HHs is limited, and this has made it challenging to treat them effectively. Many patients continue to experience seizures even after surgery. We’ve typically considered HH-related epilepsy as a localized problem, but a new theory suggests that it may involve a network of brain areas. In our study, we aim to change the way we view HH-related epilepsy. Instead of thinking of it as a single lesion in the brain, we explore the idea that it’s a network disease. To do this, we’ll investigate various aspects of HHs, such as the genes and pathways involved, how different parts of the brain interact, the impact on the whole brain, the types of seizures experienced, and any related health issues. By looking at HHs through this network theory, we hope to gain a deeper understanding of the condition and potentially discover new ways to manage and treat epilepsy associated with HHs. This shift in perspective could offer hope to those living with HH-related epilepsy and lead to more effective treatments, ultimately improving their quality of life.
© The Author(s) 2024.