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Mutations analysis SCN1A gene in 1-4 exons epilepsy GEFS type with PCR-SSCP Technique in Chaharmahal Bakhtiari Province in epilepsy clinik

عنوان مقاله: Mutations analysis SCN1A gene in 1-4 exons epilepsy GEFS type with PCR-SSCP Technique in Chaharmahal Bakhtiari Province in epilepsy clinik
شناسه ملی مقاله: CIGS13_0321
منتشر شده در اولین کنگره بین المللی و سیزدهمین کنگره ژنتیک ایران در سال 1393
مشخصات نویسندگان مقاله:

Fatemeh Heybati - Cellular and Molecular Research Center, Shahrekord Univ. of Med. Sci. Shahrekord, Iran
Batol Karimi - Cellular and Molecular Research Center, Shahrekord Univ. of Med. Sci. Shahrekord, Iran
Gafar Mehvari - Cellular and Molecular Research Center, Shahrekord Univ. of Med. Sci. Shahrekord, Iran
Marziye Abolhasani - Cellular and Molecular Research Center, Shahrekord Univ. of Med. Sci. Shahrekord, Iran

خلاصه مقاله:
Back ground: Epilepsy is a periodic irregularity in nervous system which is caused by a pathologic sever of neurons lead to sensory dysfunction loss of consciousness and mental status disorder .Epilepsy is divided in to generalized epilepsy with loss of consciousness and focal epilepsy. There is another classificatory base an etiology as idiopathic with genetic originand symptomatic or acquired. Method: In this study after filling the questionnaire and informing patient around the study. Their blood samples wereassessed. The samples were preserved in standard condition and after DNA extraction was screened SCN1A gene in 1-4exons. Results: There were 2 suspicious sample with in 30 patient with GEFS+ showed, no mutation and polymorphism.conclusion: There were no mutant in1-4 exons, However, no evidence of mutation does not refuse the relationship betweenmutant and seizure. This study has assessed 4 exons out of 27 exons and it can decrease probability of mutation evidence. Besides, there are some other effective factors in GEFS+ like SCN1B, SCN2A genes and GABA reseptors and if can effect our study results

کلمات کلیدی:
Epilepsy, Ion channel, Mutation, PCR-SSCP, SCN1A gene

صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/328000/