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2016, Cilt 14, Sayı 2, Sayfa(lar) 118-124
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SCN1A, SCN2A, KCNQ2 Gene Mutations in Epilepsy With Generalized Tonic-Clonic Seizures
Zeynep Aytaç1, Berrin Tuğrul2, Burak Batır2, Ece Onur3, Hikmet Yılmaz4
1Manisa Celal Bayar Üniversitesi Fen Bilimleri Enstitüsü, Moleküler Biyoloji Programı, Manisa, Türkiye
2Manisa Celal Bayar Üniversitesi Fen Edebiyat Fakültesi, Moleküler Biyoloji Anabilim Dalı, Manisa, Türkiye
3Manisa Celal Bayar Üniversitesi Tıp Fakültesi, Tıbbi Biyokimya Anabilim Dalı, Manisa, Türkiye
4Manisa Celal Bayar Üniversitesi Tıp Fakültesi, Nöroloji Anabilim Dalı, Manisa, Türkiye
Keywords: epilepsy; GTCS; KCNQ2; SCN1A; SCN2A
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.

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