SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis

Zhi, Haiyang; Wu, Changan; Yang, Ziqing

doi:10.1016/j.eplepsyres.2018.03.016

Cited by 3 publications

(2 citation statements)

References 26 publications

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“…[7,8] Voltage-gated sodium channel is a common target of antiepileptic drugs. [9,10] Mutations in SCN1A and SCN2A genes encoding the a subunit of ion channel are closely related to the response rate and drug resistance of valproic acid (VPA) and carbamazepine. [11] Therefore, it is of great significance to improve the antiepileptic response rate of VPA from the point of genetics, the prognosis of patients and the rehabilitation of neurological functions.…”

Section: Introductionmentioning

confidence: 99%

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Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children

Wen¹,

Chen

Zhu³

et al. 2021

Medicine

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Background : The gene mutation of coding sodium channel is one of the most important mechanisms in the pathogenesis of epilepsy. There exists a large inter-individual variation in the efficacy of valproic acid (VPA) against epilepsy. What are the genetic polymorphism influences of sodium channels on VPA response is still under discussion. In this study, a meta-analysis was used to further explore the effects of SCN1A and SCN2A gene polymorphism on VPA response in children with epilepsy. Methods : The PubMed, EMBASE, Web of Science, Chinese National Knowledge Infrastructure, Chinese Science and Technique Journals Database, China Biology Medicine disc, and Wan Fang Database were searched up to April 2021 for appropriate studies regarding the association between SCN1A and SCN2A gene polymorphism on VPA response in children suffering from epilepsy. The meta-analysis was conducted by Review Manager 5.3 software. Results : The results of this meta-analysis will be submitted to a peer-reviewed journal for publication. Conclusion : This meta-analysis will summarize the effects of SCN1A and SCN2A gene polymorphisms on VPA response in children with epilepsy. OSF Registration Number: DOI 10.17605/OSF.IO/N2786.

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Section: Introductionmentioning

confidence: 99%

“…Voltage-gated sodium channel is a common target of antiepileptic drugs [9,10] . Mutations in SCN1A and SCN2A genes encoding the α subunit of ion channel are closely related to the response rate and drug resistance of valproic acid (VPA) and carbamazepine [11] .…”

Section: Introductionmentioning

confidence: 99%

Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children

Wen¹,

Chen

Zhu³

et al. 2021

Medicine

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Association of apolipoprotein E genotypes with epilepsy risk: A systematic review and meta-analysis

Liang

Zhou

Wang

et al. 2019

Epilepsy & Behavior

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SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis

Hao

Liu

et al. 2020

Front. Neurol.

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Background: Previous studies had investigated the association between polymorphism of IVS5N+5 G>A in SCN1A and the risk of febrile seizure and epilepsy. However, the results were inconsistent. We aimed to conduct a systematic review and meta-analysis to evaluate the association between SCN1A IVS5N+5 G>A polymorphism and risk of febrile seizures and epilepsy.Methods: We searched Embase, Medline, Scopus, and CNKI for studies on the association between SCN1A IVS5N+5 G>A polymorphism and risk of febrile seizures and epilepsy up to 19 February 2020. We pooled odds ratios (ORs) and 95% confidence intervals (CIs) by different genetic models. To explore the source of heterogeneity, we performed the subgroup analysis by ethnicity and source of control.Results: We included a total of 12 studies in the meta-analysis. We found a significant negative association between G allele SCN1A IVS5N+5 G>A polymorphism, febrile seizures [G vs. A: OR (95% CI): 0.690 (0.530–0.897); GG vs. AA: 0.503 (0.279–0.908); AG vs. AA: 0.581 (0.460–0.733); GG + AG vs. AA: 0.543 (0.436–0.677); AA + GG vs. AG: 1.309 (1.061–1.615)], and epilepsy [G vs. A: 0.822 (0.750–0.902); GG vs. AA: 0.655 (0.515–0.832); AG vs. AA: 0.780 (0.705–0.862); GG vs. AG + AA: 0.769 (0.625–0.947); GG + AG vs. AA: 0.743 (0.663–0.833); AA + GG vs. AG: 1.093 (1.001–1.193)]. The subgroup analysis shows the association varied by type of disease, ethnicity, and source of control.Conclusion: The present meta-analysis suggests that G allele in SCN1A IVS5N+5 G>A polymorphism is a protective factor of febrile seizures and epilepsy. It is possible to determine the vulnerability of each individual to develop febrile seizures or epilepsy genotype by these genetic variants. Future studies with better study designs are needed to confirm the results.Study Registration: This study was registered in the International Prospective register of systematic reviews (PROSPERO, CRD42020163318).

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SCN1A rs3812718 polymorphism is associated with epilepsy: An updated meta-analysis

Cited by 3 publications

References 26 publications

Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children

Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children

Association of apolipoprotein E genotypes with epilepsy risk: A systematic review and meta-analysis

SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis

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