ANKMJ
Ankyra Medical Journal

Ankyra Medical Journal (AnkMJ), formerly known as the Journal of Translational and Practical Medicine, regularly publishes international quality issues in the field of Medicine in the light of current information.

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Original Article
Investigation of the D188V mutation in the SCN1A gene in patients with idiopathic generalized epilepsy
Abstract
Aims: This study aims to investigate the D188V mutation on the sodium channel protein type 1 subunit alpha (SCN1A) in selected patients with idiopathic generalized epilepsy (IGE). The mutation in the SCN1A gene is the most common gene mutation in ion channels and is believed to play an important role in the pathology of IGE.
Methods: This study included patients with IGE selected among patients with epilepsy admitted to the outpatient neurology department of Okmeydanı Training and Research Hospital. Medical history, clinical examination, electroencephalography (EEG), and imaging features of the patients were evaluated. IGE patients with no etiological cause were included in the study. The D188V mutation on the SCN1A gene was investigated by PCR method in the blood samples of the patients.
Results: D188V mutation on the SCN1A gene was investigated in a total of 65 patients, of which 31 were females and 34 were males. None of the cases had a D188V mutation on the SCN1A gene.
Conclusion: Increasing genetic research is promising to elucidate the etiology of many diseases. However, these studies require persistent repetition since they are complex and difficult. The role of genetics in elucidating the etiology of epilepsy is undisputed. Although existing studies support the genetic basis, further studies are still needed.

Keywords : Idiopathic generalized epilepsy, genetics, sodium channel, mutation

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Article available in :
Volume 3, Issue 4, 2024
Page : 79-83
https://doi.org/10.51271/ANKMJ-0019
Article Information
Received : 13 Haz 2024
Accepted : 09 Tem 2024
Published : 23 Tem 2024
Corresponding Author :

Hatice Seğmen: Department of Neurology, İstanbul Kanuni Sultan Süleyman Training and Research Hospital, University of Health Sciences, İstanbul, Turkiye

[email protected]
Citation : Seğmen H, Tanık O. Investigation of the D188V mutation in the SCN1A gene in patients with idiopathic generalized epilepsy. Ank Med J. 2024;3(4):79-83.

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