ĐẶC ĐIỂM LÂM SÀNG, ĐIỆN NÃO ĐỒ VÀ KIỂU GEN CỦA BỆNH ĐỘNG KINH Ở TRẺ DƯỚI 6 TUỔI TẠI BỆNH VIỆN NHI ĐỒNG 2

Abstract

Background: Epilepsy in children under six years of age encompasses various electroclinical syndromes and is closely associated with genetic mutations. In Vietnam, genetic analysis is increasingly applied in epilepsy diagnosis. Objective: To describe the clinical characteristics, electroencephalographic (EEG) findings, and genotypes of children under six years old diagnosed with epilepsy at Children's Hospital 2. Methods: A retrospective case series study was conducted on 130 pediatric patients from January 2021 to October 2023. All patients underwent next-generation sequencing (NGS) targeting either 220 or 4503 epilepsy-related genes. Results: Among the 130 children, 53 (40.8%) were identified with epilepsy of genetic origin, most commonly involving SCN1A (32.1%) and PRRT2 (11.3%) mutations. The most frequent seizure type was generalized tonic-clonic seizures. The majority had disease onset within the first year of life (84.3%) and exhibited developmental abnormalities. Abnormal EEG findings were observed in 78.7% of cases. Several variants had not been previously reported in the ClinVar database. Conclusion: Next-generation sequencing demonstrates a high diagnostic yield for genetic epilepsy in children under six. Identification of causative genetic variants aids in syndrome classification, treatment strategies, and prognostication