Department of Pediatrics, Mansoura University Faculty of Medicine, Mansoura, Egypt.
Department of Clinical Pathology (Hematology), Mansoura University Faculty of Medicine, Mansoura, Egypt.
Ital J Pediatr. 2022 Sep 2;48(1):157. doi: 10.1186/s13052-022-01350-2.
Mutations in the neuronal sodium voltage-gated channel, alpha subunit 1 (SCN1A) gene have been associated with epilepsy. We investigated the SCN1A-A3184G polymorphism among Egyptian children and adolescents with non-lesional epilepsy.
A prospective case - control observational study was done in Mansoura University Children's Hospital, Egypt including 326 children with non-lesional epilepsy (163 antiepileptic drugs (AEDs) resistant cases & 163 AEDs responders) and 163 healthy controls. One step real time polymerase chain reaction (PCR) was used for the molecular analysis. Student's t-test, and Monto Carlo, chi-square and Mann-Whitney tests were used for the statistical analysis.
All study participants were matched as regards the age, sex and body weight (p = 0.07, 0.347 and 0.462, respectively). They had the (AA) and (AG) genotypes but not the (GG) variant. No significant differences were found between cases and controls regarding (AG) and (AA) genotypes and A- and G-alleles (p = 0.09 and 0.3, respectively). We did not find significant differences between AEDs responders and resistant cases regarding the studied genotypes and alleles (p = 0.61 and 0.746, respectively). In the resistant group, we observed significant associations between the (AG) genotype and seizure frequency (p = 0.05), the tonic-clonic seizure (p < 0.001), the younger age of first seizure attack (p = 0.03), abnormal electroencephalogram (EEG) (p < 0.001), the positive family history of epilepsy (p = 0.006), topiramate (p = 0.03) and valproic acid (p < 0.001), while the (AA) genotype was associated with carbamazepine (p = 0.03). While in AEDs responders, there were significant associations between the AG genotype and the abnormal EEG activity, levetiracetam and carbamazepine (p = 0.016, 0.028 and 0.02).
The SCN1A-A3184G genotypes and alleles were not associated with the epilepsy risk among Egyptian children. Significant associations were reported between the AG genotype and some predictors of refractory epilepsy.
神经元钠离子电压门控通道，α亚单位 1（SCN1A）基因的突变与癫痫有关。我们研究了埃及非病变性癫痫儿童和青少年中的 SCN1A-A3184G 多态性。
这是一项前瞻性病例对照观察研究，在埃及曼苏拉大学儿童医院进行，包括 326 名非病变性癫痫患儿（163 例抗癫痫药物（AEDs）耐药病例和 163 例 AEDs 反应者）和 163 名健康对照者。采用一步实时聚合酶链反应（PCR）进行分子分析。采用学生 t 检验、Monto Carlo、卡方检验和曼-惠特尼检验进行统计学分析。
所有研究参与者在年龄、性别和体重方面均匹配（p=0.07、0.347 和 0.462）。他们具有（AA）和（AG）基因型，但不具有（GG）变体。病例组和对照组在（AG）和（AA）基因型和 A-和 G-等位基因方面无显著差异（p=0.09 和 0.3）。我们未发现 AEDs 反应者和耐药病例在研究的基因型和等位基因方面有显著差异（p=0.61 和 0.746）。在耐药组中，我们观察到（AG）基因型与发作频率（p=0.05）、强直-阵挛性发作（p<0.001）、首次发作年龄较小（p=0.03）、脑电图（EEG）异常（p<0.001）、癫痫阳性家族史（p=0.006）、托吡酯（p=0.03）和丙戊酸（p<0.001）之间存在显著相关性，而（AA）基因型与卡马西平（p=0.03）之间存在相关性。而在 AEDs 反应者中，AG 基因型与异常 EEG 活动、左乙拉西坦和卡马西平之间存在显著相关性（p=0.016、0.028 和 0.02）。
SCN1A-A3184G 基因型和等位基因与埃及儿童癫痫风险无关。AG 基因型与难治性癫痫的一些预测因素之间存在显著相关性。
