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Journals / Türk Klinik Biyokimya Dergisi / 2016 / Cilt: 14 - Sayı: 2

SCN1A, SCN2A, KCNQ2 Gene Mutations in Epilepsy With Generalized Tonic-Clonic Seizures

SCN1A, SCN2A, KCNQ2 Gen Mutasyonları ve Jeneralize Tonik- Klonik Nöbetli Epilepsi

Burak BATIR
Ece ONUR
Berrin TUĞRUL
Hikmet YILMAZ
Zeynep AYTAÇ
Pages
118–124
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: SCN1A, SCN2A and KCNQ2 mutations may not be related to GTCS.

📌 3 Key Takeaways

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Objective & Hypothesis:Ojective:In this study, we aimed to investigate if there is a relationship between mutations in SCN1A (R1648H), SCN2A (GAL879-881QQQ), KCNQ2 (V182M) genes and epilepsy with generalized tonic-clonic seizure (GTCS).
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Key Findings & Data:Materials and Methods: Seventy five patients with GTCS type epilepsy and 75 healthy subjects were included in our study.
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Conclusion & Impact:Conclusion: SCN1A, SCN2A and KCNQ2 mutations may not be related to GTCS.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Ojective:In this study, we aimed to investigate if there is a relationship between mutations in SCN1A (R1648H), SCN2A (GAL879-881QQQ), KCNQ2 (V182M) genes and epilepsy with generalized tonic-clonic seizure (GTCS). Materials and Methods: Seventy five patients with GTCS type epilepsy and 75 healthy subjects were included in our study. DNA's of patients and controls were isolated and the interested regions of SCN1A, SCN2A, KCNQ2 genes were amplified by polymerase chain reaction (PCR). DNA sequence analysis was applied to PCR products. The sequence analysis results were analyzed in MEGA (Molecular Evolutionary Genetics Analysis) program. The findings were evaluated statistically. Results: R1648H, GAL879-881QQQ, V182M mutations were not observed in the patient group and the control group. R1648P variant, 134272 A>G polymorphism and 134347 G>A polymorphism were found in SCN1A gene. 105649 G>A polymorphism was determined in SCN2A gene. 28704 T>G polymorphism was found in KCNQ2 gene. The difference between variant and polymorphisms determined in patients and control groups were not statistically significant (p>0.05). Conclusion: SCN1A, SCN2A and KCNQ2 mutations may not be related to GTCS.

Özet

Amaç: Bu çalışmada, SCN1A (R1648H), SCN2A (GAL879-881QQQ), KCNQ2 (V182M) genlerindeki mutasyonlar ile Jeneralize Tonik-klonik nöbetli (JTKN) epilepsi arasında ilişki olup olmadığının araştırılması amaçlandı. Gereç ve Yöntem: JTKN tip epilepsili 75 hasta ve 75 sağlıklı kişi çalışmamıza dahil edildi. Hasta ve kontrol grubundaki kişilerin DNA'ları izole edildi ve SCN1A, SCN2A, KCNQ2 genlerinin ilgili bölgeleri polimeraz zincir reaksiyonu (PZR) ile çoğaltıldı. PZR ürünlerine DNA dizi analizi yapıldı. Dizi analiz sonuçları MEGA (Molecular Evolutionary Genetics Analysis) programında analiz edildi. Bulgular istatistiksel olarak değerlendirildi. Bulgular: R1648H, GAL879-881QQQ, V182M mutasyonları hasta ve kontrol grubunda gözlenmedi. R1648P varyantı, 134272 A>G polimorfizmi ve 134347 G>A polimorfizmi SCN1A geninde bulundu. 105649 G>A polimorfizmi SCN2A geninde belirlendi. 28704 T>G polimorfizmi KCNQ2 geninde bulundu. Hasta ve kontrol grubunda belirlenen variant ve polimorfizmler arasındaki fark istatistiksel olarak anlamlı değildi (p>0.05). Sonuç: Bu mutasyonların JTKN ile ilişki olmadığı sonucuna varıldı.

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Cite This Article

BATIR, B., ONUR, E., TUĞRUL, B., YILMAZ, H., AYTAÇ, Z. (2022). SCN1A, SCN2A, KCNQ2 Gene Mutations in Epilepsy With Generalized Tonic-Clonic Seizures. Türk Klinik Biyokimya Dergisi, Cilt: 14 - Sayı: 2, 118–124. https://ajindex.com/articles/634416

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