ObjectiveTo study the clinical features of children with seizures as core symptoms of neuronal surface antibody syndromes. MethodsThe clinical data of neuronal surface antibody syndromes between December 2015 and December 2016 were obtained and analyzed. All children presented to hospital with seizures as core symptoms. ResultsThere were 1 male and 9 females in this study. The ages ranged from 3 years to 13 years. The disease course was between 3 and 14 days. All children presented to hospital with seizures as core symptoms.Two children had tonic seizures. one had tonic-clonic seizure. Seven had partial seizures. Among them, six children had status epilepticus and cluster attack. The other symptoms in the course of the disease were psychiatric symptoms and extrapyramidal symptoms.The anti-NMDAR antibody were found in 9 patients' CSF and blood. The LGI1 antibody was found in one patients' CSF and blood.The EEG test of 7 patients showed slow wave and sharp slow wave. Two showed spike wave. One showed slow wave.The MRI test of one patient showed abnormal. Ten cases were treated with IVIG and methylprednisolone during acute stage. The patients had been followed up for 3 to 6 months. Eight of them recovered completely. Two cases had seizures. Two cases diagnosed with anti-NMDAR related epilepsy received sound effects after treated with cyclophosphamide. ConclusionsConvulsion may be the first common symptom of neuronal surface antibody syndromes in children. Immune factors should be screened when children with acute seizures and status epilepticus. Accompanying psychiatric symptoms, autoimmune epilepsy should be considered. The most common neuronal surface antibody in children with neuronal surface antibody syndromes is NMDAR antibody. EEG usually shows slow wave and sharp slow wave during seizures. Brain MRI is usually normal. Immunotherapy is effective in the majority of patients as the first line treatment. When the first-line treatment failed, second-line immunotherapy such as cyclophosphamide shock therapy on a regular basis is helpful.
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.