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DESCRIPTION OF CLINICAL CHARACTERISTICS AND SCN1A GENE VARIANTS IN CHILDREN WITH DRUG-RESISTANT EPILEPSY IN VIETNAM
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Abstract
Objectives: Analysis of some clinical characteristics and variants of SCN1A genes to determine risk factors for drug-resistant epilepsy in children. Subjects and methods: Cross-sectional descriptive study of 213 children with epilepsy treated at the
Department of Neurology of the National Children's Hospital and the Department of Neurology of Nghe An Obstetrics and Pediatrics Hospital from January 2021 to April 2023, divided into 2 groups: drug-resistant epilepsy group (n = 112) and drug-responsive (n = 101). Patients were diagnosed with drug-resistant epilepsy and drug-responsive according to the criteria ILAE 2010. Results: The drug-resistant epilepsy group had status epilepticus accounting for 25.9%, neonatal seizures accounting for 15.2%, febrile seizures accounting for 35.7%, and delayed psychomotor development milestones accounting for 93.8%. The mean age of onset was 11.8 ± 13 months, the mean seizure frequency in 1 day was 10.6 ± 8.6. The results of paraclinical analysis of EEG and abnormal brain MRI accounted for 92.8% and 58.9%, respectively. SCN1A rs3812718, SCN1A rs10188577 gene variants showed statistically significant differences compared with the drug responsive group. Conclusion: A history of neonatal seizures, febrile seizures, status epilepticus, delayed psychomotor milestones, abnormal EEG and MRI were factors related to drug-resistant epilepsy. Gene variants SCN1A rs3812718, SCN1A rs10188577 have a statistically significant difference with (p < 0.05).
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Keywords
Children, epilepsy, drug-resistant epilepsy, SCN1A gene variant, Epilepsy, drug-resistant epilepsy, SCN1A gên variant
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