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SCN1A Genetic Alterations and Oxidative Stress in Idiopathic Generalized Epilepsy Patients: A Causative Analysis in Refractory Cases

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Abstract

Single Nucleotide Polymorphisms (SNPs) have found it be associated with drug resistance in epilepsy. The purpose of this study was to determine the role of SCN1A gene polymorphism in developing drug resistance in idiopathic generalized epilepsy (IGE) patients, along with increased oxidative stress. The study was conducted at a tertiary care hospital in Delhi, India. We recruited 100 patients diagnosed with IGE patients, grouped as drug-resistant and drug-responsive, and then further compared the SCN1A SNP rs10167228 A*/T analysis between the two groups. We utilized the PCR-RFLP technique to investigate the association between polymorphisms and refractory epilepsy. Serum HMGB1 levels were estimated using the ELISA technique to analyze oxidative stress in both groups. rs10167228 A*/T polymorphism genotypes AT and AA genotypes are significantly associated with an increased risk of developing drug resistance. Serum HMGB1, IL-1β, and IL-6 levels were significantly higher in drug-resistant cases, compared to the drug-responsive group. The association of SCN1A gene polymorphisms, in conjunction with raised oxidative stress, may be predictive of the development of drug-resistant epilepsy. The AT and AA genotypes of rs10167228 may pose a risk factor for developing drug-resistant epilepsy.

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Acknowledgements

Thanks to the Multidisciplinary Research Unit (MRU), Maulana Azad Medical College, New Delhi for providing molecular analysis research facilities and support.

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Authors and Affiliations

  1. Department of Biochemistry, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi, India

    Aroop Viswas & Pradeep Kumar Dabla

  2. Department of Neurology, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi, India

    Swapan Gupta

  3. Multi-disciplinary Research Unit, Maulana Azad Medical College, New Delhi, India

    Manisha Yadav, Alokit Tanwar & B C Koner

  4. Manav Rachna International Institute of Research and Studies, Faridabad, Haryana, India

    Alokit Tanwar

  5. Department of Computer Science, CHRIST (Deemed to be University), Ghaziabad, Delhi NCR, India

    Kamal Upreti

  6. Department of Biochemistry, Maulana Azad Medical College, New Delhi, India

    B C Koner

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  1. Aroop Viswas
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All authors have reviewed the entire content of this manuscript and approved its submission.

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Correspondence to Pradeep Kumar Dabla.

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The authors declare that they have no conflicts of interest.

Ethical Approval

IEC/MAMC/82/.

Informed Consent

Informed consent was obtained from all individual participants included in the study. Personal interviews were conducted to gather information on ethnicity, seizure frequency, duration of seizures, and compliance.

Research Involving Human Participants

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. The study involving human participants was approved by the Institutional Ethical Committee of Maulana Azad Medical College and associated hospitals, Delhi, India (F1/IEC/MAMC/82/; Dt-14.01.2021).

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Viswas, A., Dabla, P.K., Gupta, S. et al. SCN1A Genetic Alterations and Oxidative Stress in Idiopathic Generalized Epilepsy Patients: A Causative Analysis in Refractory Cases. Ind J Clin Biochem (2023). https://doi.org/10.1007/s12291-023-01164-x

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  • DOI: https://doi.org/10.1007/s12291-023-01164-x

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