Association of SCN1A Mutations with Epilepsy among Sudanese Patients

S. Mohamed, Sawsan A. H. Aldeaf, Rasha Elhassan, Abasshar Hussein, Alsadig Gassoum, A. Abdrabo
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Abstract

Background: Genetics research of humans has established that a genetic basis contributes to the susceptibility to epilepsy for a majority of the cases. Although many epilepsies are secondary to injury or another illness, approximately 40% are idiopathic, meaning that the original cause is unknown. It is presumed that most idiopathic epilepsies result from genetic abnormalities, with the majority likely caused by mutations in multiple currently unidentified genes. However, research has revealed a growing number of single-gene mutations that cause epilepsy. Objective: To detect some of the genetic mutations which may cause idiopathic epilepsy. Methods: The current study is a cross-sectional study that had been performed at Sheikh Mohamed Khair center, Banat, Omdurman, and National Centre for Neurological Sciences (NCNS) Khartoum state, during the period 2016 to 2019. Ninety-nine participants were enrolled in this study. Demographic data were collected in a predesigned questionnaire blood samples were analyzed for biochemical and molecular tests. Results: Ninety-nine patients diagnosed with idiopathic epilepsy were recruited in this study. The most affected age group was 18 - 40 years accounted for 55% of patients. Females were the majority with 53%. Fifty percent of the patients had the first seizure at age less than 5 years. Ninety percent of the patients have no Family history with epilepsy. All sequenced samples showed genetic mutations, deletion mutation was detected in 71% of the samples. Bioinformatics tools detected a frameshift mutation in the chain of the amino acids. Conclusion: The current study detected deletion mutations in SCN1A gene (frameshift) can cause epilepsy by changing some amino acids with residues that can affect neuronal stability indirectly.
苏丹患者中SCN1A突变与癫痫的关系
背景:人类遗传学研究已经确定,遗传基础有助于大多数病例的癫痫易感性。虽然许多癫痫是继发于损伤或其他疾病,但大约40%是特发性的,这意味着原始原因尚不清楚。据推测,大多数特发性癫痫是由遗传异常引起的,其中大多数可能是由多个目前尚未确定的基因突变引起的。然而,研究表明,越来越多的单基因突变导致癫痫。目的:检测一些可能引起特发性癫痫的基因突变。方法:目前的研究是一项横断面研究,于2016年至2019年期间在Banat, Omdurman的Sheikh Mohamed Khair中心和喀土穆州国家神经科学中心(NCNS)进行。99名参与者参加了这项研究。通过预先设计的问卷收集人口统计数据,并对血液样本进行生化和分子检测。结果:本研究招募了99例诊断为特发性癫痫的患者。18 - 40岁为最常见年龄组,占患者总数的55%。女性占多数,占53%。50%的患者在不到5岁的时候第一次发作。90%的患者没有癫痫家族史。所有测序样本均出现基因突变,71%的样本检测到缺失突变。生物信息学工具检测到氨基酸链中的移码突变。结论:本研究发现SCN1A基因缺失突变(移码)可通过改变一些氨基酸残基间接影响神经元稳定性而引起癫痫。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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