There are more than 65 million patients with epilepsy in the world. The morbidity and mortality of epilepsy are high, and the social and psychological burden brought by this disease is serious. The etiology of epilepsy is complex and the seizure types are various. There are great heterogeneity in the clinical manifestations and etiology. At present, the etiology of epilepsy can be classified as six categories: structural, genetic, infectious, metabolic, immune, and neurodegenerative. More and more attention has been paid to the immune etiology of epilepsy. Complement, as an important part of the immune system, can participate in the development of epilepsy by promoting inflammatory response, affecting synaptic deletion and pruning imbalance, forming membrane attack complex and so on, which plays an important role in the pathogenesis of epilepsy. Intravenous immunoglobulin, human C1 esterase inhibitor (C1-Inh) and monoclonal antibody Eculizumab/Ravulizumab have been used for complement targeted therapy in epilepsy. However, the relationship between epilepsy and immunity is complex, and the role of complement in the epileptogenesis, development and treatment of epilepsy still needs to be further studied.
Epilepsy and epileptic seizures have a long history of stigmatization. In the 20th century, epilepsy patients were treated as usual as patients with mental disorders and neurodegenerative diseases. More than 30 years ago, scholars still believed that most patients with a first unprovoked seizure would have more seizures unless they were treated. It was not taken place until Hauser's research reported that landmark changed. However, there is still controversy about workup and treatment for a first unprovoked seizure. No consensus was reached. This article is to review the changes and challenges in the workup, treatment and management of a first unprovoked seizure in children in the past 30 years in order to provide available data and standardized management process.
Developmental epileptic encephalopathies (DEEs) are a group of disorders characterized by early-onset seizures, abnormal electroencephalogram (EEG) patterns, and developmental delay or regression. They are characterized by complex etiology and are often refractory to treatment, severely impacting affected children, particularly infants and toddlers, and pose a challenge in pediatric neurology. In recent years, with the rise of precision medicine, an increasing number of pathogenic genes associated with DEEs have been discovered. However, the specific pathogenic mechanisms and signaling pathways of these genes in the body still require further investigation. This article primarily discusses the genetic patterns of DEEs and the selection of genetic testing, emphasizing the timing of genetic testing assisted by the epilepsy phenotype, especially in DEEs associated with single-gene mutations and new therapeutic drugs, to aid in clinical decision-making for DEEs. It also introduces the use of neurobiological models for DEE research to effectively advance epilepsy research, thereby enabling targeted gene therapy.