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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

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Year: 2014
COI code: CIGS13_0321
Paper Language: English

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

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

Abstract:

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

Keywords:

Epilepsy, Ion channel, Mutation, PCR-SSCP, SCN1A gene

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COI code: CIGS13_0321

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Heybati, Fatemeh; Batol Karimi; Gafar Mehvari & Marziye Abolhasani, 2014, Mutations analysis SCN1A gene in 1-4 exons epilepsy GEFS type with PCR-SSCP Technique in Chaharmahal Bakhtiari Province in epilepsy clinik, 12th Congress of Iranian Genetics Society, تهران, انجمن ژنتيك ايران, https://www.civilica.com/Paper-CIGS13-CIGS13_0321.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Heybati, Fatemeh; Batol Karimi; Gafar Mehvari & Marziye Abolhasani, 2014)
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