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©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Exp Med. Sep 20, 2024; 14(3): 94999
Published online Sep 20, 2024. doi: 10.5493/wjem.v14.i3.94999
Published online Sep 20, 2024. doi: 10.5493/wjem.v14.i3.94999
SCN1A rs6732655A/T polymorphism: Diagnostic and therapeutic insights for drug-resistant epilepsy
Aroop Viswas, Pradeep K Dabla, Dharmsheel Shrivastav, Department of Biochemistry, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi 110002, Delhi, India
Swapan Gupta, Department of Neurology, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, New Delhi 110002, Delhi, India
Manisha Yadav, Subhash Yadav, Bidhan Chandra Koner, Multi-disciplinary Research Unit, Maulana Azad Medical College, New Delhi 110002, Delhi, India
Subhash Yadav, Department of Biotechnology, Amity University Gwalior, Gwalior 474005, Madhya Pradesh, India
Bidhan Chandra Koner, Department of Biochemistry, Maulana Azad Medical College, New Delhi 110002, Delhi, India
Author contributions: Viswas A and Yadav S conducted experiments; Dabla PK designed the study and provided facilities for biochemical testing; Dabla PK, Shrivastav D, Viswas A, Yadav M analysed the manuscript; Koner BC provided facilities for molecular testing; Gupta S provided the facility for the enrolment of patients; All authors reviewed and approved the manuscript.
Institutional review board statement: 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/82/10/2020/no.225; Dt-14.01.2021).
Informed consent statement: 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.
Conflict-of-interest statement: All authors declared no conflicts of interest.
Data sharing statement: Technical appendix, statistical code, and dataset available upon reasonable request from the corresponding author at pradeep_dabla@yahoo.com.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non-commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Pradeep K Dabla, MD, Professor, Department of Biochemistry, Govind Ballabh Pant Institute of Postgraduate Medical Education and Research, 1, Jawaharlal Nehru Marg, 64 Khamba Raj Ghat, New Delhi 110002, Delhi, India. pradeep_dabla@yahoo.com
Received: March 29, 2024
Revised: May 20, 2024
Accepted: June 21, 2024
Published online: September 20, 2024
Processing time: 152 Days and 17 Hours
Revised: May 20, 2024
Accepted: June 21, 2024
Published online: September 20, 2024
Processing time: 152 Days and 17 Hours
Core Tip
Core Tip: Genetic factors, including SCN1A gene variants, and their pro-inflammatory cytokine response [interleukin (IL)-1β, IL-6, and high mobility group box 1 protein (HMGB1)], play crucial roles in drug-resistant epilepsy. This study investigates the correlation between SCN1A gene variants (rs6732655A/T) and drug resistance in epilepsy, confirming higher levels of IL-1β, IL-6, and HMGB1 in drug-resistant cases and suggesting specific genotypes (AA and AT) as potential biomarkers for oxidative stress and neuro-inflammation in drug-resistant idiopathic epilepsy.