Vai trò của gen SCN1A trong điều trị bệnh nhân động kinh kháng thuốc tại Bệnh viện Tâm Anh=The role of SCN1A gene in the treatment of patients with drug-resistant epilepsy at Tam Anh Hospital

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Tác giả: Thị Huyền Diêm, Thị Hậu Kiều, Thu Hà Nguyễn, Văn Liệu Nguyễn

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2024

Mô tả vật lý: tr.95-102

Bộ sưu tập: Metadata

ID: 243908

Thêm vào giỏ

Analyze the role of SCN1A gene in the treatment of drug-resistant epilepsy at Tam Anh hospital. Methods: A cross-sectional descriptive and longitudinal follow-up study was conducted on 64 patients with drug-resistant epilepsy and SCN1A gene mutations who were examined and treated at the Department of Neurology and Stroke, Tam Anh Hospital. Real-time PCR TaqMan LNA probe technique and Sanger gene sequencing technique were used to detect rs3812718 (G>
A
IVS5-91) and rs2298771 (G>
A
p.Ala1067Thr) polymorphisms of the SCN1A gene. Results: In the study population, the average age was 4,7 ± 4.5 years, and the male/female ratio was 1,2. For the rs3812718 (G>
A) polymorphism of the SCN1A gene, the rate of the homozygous AA genotype was 83.9%, and the rate of the heterozygous GA genotype was 16.1%. For the rs2298771 (G>
A) polymorphism of the SCN1A gene, the rate of the homozygous AA genotype was 57.8%, and the rate of the heterozygous GA genotype was 42.2%. According to suggestions for choosing antiepileptic drugs such as valproic acid, levetiracetam and topiramate when detecting SCN1A gene mutations, the drug response rate (reducing seizure frequency by at least 50%) was 51.6%, the drug non-response rate was 18.8%, and the drug unknown response group was 29.7%. Conclusions: Detection of SCN1A gene mutations is effective in the treatment of patients with drug-resistant epilepsy, and the drug response rate according to the suggestions for choosing antiepileptic drugs was relatively high. Additionally, there are many other factors that affect the drug non-response rate and drugresistant epilepsy.Phân tích vai trò của gen SCN1A trong điều trị người bệnh động kinh kháng thuốc tại bệnh viện Tâm Anh. Phương pháp nghiên cứu: Nghiên cứu mô tả cắt ngang và theo dõi dọc được thực hiện trên 64 người bệnh động kinh kháng thuốc có đột biến gen SCN1A khám và điều trị tại Khoa Thần kinh và Đột quỵ - Bệnh viện Tâm Anh. Kỹ thuật real-time PCR Taqman LNA probe và kỹ thuật giải trình tự gen Sanger được sử dụng để phát hiện các đa hình rs3812718 (G>
A
IVS5-91) và rs2298771 (G>
A
p.Ala1067Thr) của gen SCN1A. Kết quả: Trong quần thể nghiên cứu, tuổi trung bình của nhóm đối tượng nghiên cứu là 4,7 ± 4,5 tuổi và tỷ lệ nam/nữ là 1,2. Với đa hình rs3812718 (G>
A) của gen SCN1A, tỷ lệ kiểu gen AA đồng hợp tử là 83,9%, tỷ lệ kiểu gen GA dị hợp tử là 16,1%. Với đa hình rs2298771 (G>
A) của gen SCN1A, tỷ lệ kiểu gen AA đồng hợp tử là 57,8%, tỷ lệ kiểu gen GA dị hợp tử là 42,2%. Theo gợi ý lựa chọn thuốc kháng động kinh là acid valproic, levetiracetam và topiramate khi phát hiện đột biến gen SCN1A, tỷ lệ đáp ứng với thuốc (giảm tần suất cơn giật ít nhất 50%) là 51,6%, tỷ lệ không đáp ứng là 18,8%, và nhóm không rõ đáp ứng là 29,7%. Kết luận: Việc phát hiện đột biến gen SCN1A đem lại hiệu quả trong điều trị cho người bệnh động kinh kháng thuốc, với tỷ lệ đáp ứng với thuốc theo gợi ý lựa chọn thuốc chống động kinh là tương đối cao. Ngoài ra, còn nhiều yếu tố khác ảnh hưởng đến việc không đáp ứng với thuốc hoặc gây nên tình trạng động kinh kháng thuốc.

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