关键词: 药物难治性癫痫, 儿童, 临床特征, 遗传因素

Abstract: Background At present, the proportion of Drug-resistant epilepsy ( DRE) in children is still maintained at about 30%, and it is often combined with mental retardation, affecting the quality of life, so the diagnosis and treatment of DRE is still a major challenge in neurology. Objective Analyze the genetic and clinical characteristics of pediatric DRE to provide a theoretical foundation for genetic testing in clinical practice. Methods A retrospective analysis of 95 children with DRE who were hospitalized in Hebei Children's Hospital from January 2020 to December 2022. According to the genetic test results, they were divided into gene mutation positive group (44 cases) and gene mutation negative group (51 cases), and the clinical data of the two groups were analyzed and compared. Results Among 95 pediatric patients with DRE, the gender ratio stands at 1.375:1, with a median onset age of 0.5 (1, 4) years and a median number of medications used being 3 (2, 4). Clinical seizure types are diverse, with the most common being multiple types, accounting for 52.6%, followed by focal seizures at 33.7%. A total of 38 cases (40%) were diagnosed with epilepsy syndromes, with 76.3% having onset in the neonatal or infantile period. After onset, 43 cases (45.3%) exhibited varying degrees of developmental delay, with 79% experiencing generalized developmental delays. Genetic variations were detected in 44 cases, resulting in a positive detection rate of 46.3%, predominantly involving ion channel-related mutations, with SCN1A being the most prevalent single-gene mutation. Abnormalities were observed in 90 cases (94.7%) via video electroencephalogram, primarily featuring epileptiform discharges. In terms of neuroimaging, 37 cases (38.9%) showed abnormalities in cranial MRI, with common anomalies including demyelination/delay, multiple intracranial abnormal signals, and abnormal signals in the hippocampal region. No statistical significance was found in gender, family history of epilepsy, medication quantity, seizure types, or cranial MRI findings between the two groups (P > 0.05). The group with positive genetic mutations exhibited an earlier onset age than the negative mutation group (P < 0.05), a higher proportion diagnosed with epilepsy syndromes (P < 0.05), and overall developmental status inferior to the negative mutation group (P < 0.05). Additionally, the occurrence rate of high-peak dysrhythmia in video electroencephalogram was higher than that in the negative mutation group (P < 0.05). Conclusion Genetic factors play a pivotal role in pediatric DRE. The early onset age and developmental regression suggest that the genetic testing should be actively improved early, which is helpful for early diagnosis and accurate treatment.

Key words: Drug-resistant epilepsy, Pediatric, Clinical characteristics, Genetic factors