Retrospective Cohort Study
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World J Psychiatry. Feb 19, 2025; 15(2): 100738
Published online Feb 19, 2025. doi: 10.5498/wjp.v15.i2.100738
Sodium channel mutation SCN1A T875M, D188V and associated dysfunction with drug resistant epilepsy
Pradeep Kumar Dabla, Swapan Gupta, Swati Singh, Aroop Viswas, Manisha Yadav, Subash Chandra Sonkar, Bidhan Chandra Koner
Pradeep Kumar Dabla, Aroop Viswas, 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 & Research, New Delhi 110002, Delhi, India
Swati Singh, Department of Biochemistry, Govind Ballabh Pant Institute of Postgraduate Medical Education & Research, New Delhi 110002, Delhi, India
Manisha Yadav, Subash Chandra Sonkar, Bidhan Chandra Koner, Multi-disciplinary Research Unit, Maulana Azad Medical College, New Delhi 110002, Delhi, India
Bidhan Chandra Koner, Department of Biochemistry, Maulana Azad Medical College, New Delhi 110002, Delhi, India
Author contributions: Dabla PK designed and supervised the study, provided facilities for testing, contributed to data interpretation and preparation, revision and finalization of the manuscript; Gupta S provided the facility for the enrolment of patients; Viswas A conducted experiments and contributed to data collection; Singh S performed data analysis and drafted the manuscript; Konar BC, Sonkar SC and Yadav M provided facilities for the genetic analysis; all authors have reviewed the entire content of this manuscript and approved it for submission.
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. The study was approved by the Institutional Ethical Committee of Maulana Azad Medical College and associated hospitals, New Delhi, India (F1/IEC/MAMC/82/10/2020/no.225).
Informed consent statement: Informed consent was obtained from all participants included in the study. Personal interviews were conducted to gather information on ethnicity, seizure frequency, duration of seizures, and medication compliance.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
STROBE statement: The authors have read the STROBE Statement—checklist of items, and the manuscript was prepared and revised according to the STROBE Statement—checklist of items.
Data sharing statement: Technical appendix, statistical code and dataset are available from the corresponding author, Dr Pradeep Kumar Dabla.
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 NonCommercial (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 Kumar Dabla, MBBS, 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: August 24, 2024
Revised: November 30, 2024
Accepted: December 20, 2024
Published online: February 19, 2025
Processing time: 142 Days and 16.6 Hours
Core Tip

Core Tip: Epilepsy is the most common paroxysmal neurological disorder and a significant global health burden. A subset of patients are resistant to anti-epileptic drugs, leading to increased mortality and decreased quality of life. Mutations in genes encoding neuronal voltage-gated sodium channels have been linked to inherited forms of epilepsy. This study investigates the correlation between SCN1A gene variants rs121918623 and SCN1A rs121917953 and drug resistance in epilepsy suggesting specific genotypes as potential biomarkers in drug-resistant idiopathic epilepsy.