RESEARCH PAPER
SCN1A gene variations in epilepsy and migraine patients in Aceh, Indonesia
 
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1
Doctoral Study Program of Medical Science, Faculty of Medicine, Sumatera Utara University, Medan, Indonesia
 
2
Department of Neurology, School of Medicine, Syiah Kuala University, Banda Aceh, Indonesia
 
3
Medical Research Unit, School of Medicine, Syiah Kuala University, Banda Aceh, Indonesia
 
4
Department of Biochemistry, Faculty of Medicine, Gadjah Mada University, Yogyakarta, Indonesia
 
5
Faculty of Public Health, Indonesia University, Jakarta, Indonesia
 
6
Department of Neurology, Faculty of Medicine, Sumatera Utara University, Medan, Indonesia
 
 
Submission date: 2017-01-02
 
 
Acceptance date: 2017-10-30
 
 
Online publication date: 2018-01-24
 
 
Publication date: 2019-11-16
 
 
Corresponding author
Nova Dian Lestari
Department of Neurology, Faculty of Medicine, Syiah Kuala University, Jl. T. Tanoeh Abe, Darussalam, Banda Aceh 23111, Indonesia. Tel./fax: +62 651 7551843.
 
 
Pol. Ann. Med. 2018;25(1):41-45
 
KEYWORDS
ABSTRACT
Introduction:
Mutation of the sodium voltage-gated channel alpha subunit 1 (SCN1A) gene is an important cause of genetic epilepsy and familial hemiplegic migraine. However, data related to genetic variations of SCN1A in Indonesia are limited.

Aim:
To identify SCN1A gene variation in idiopathic epilepsy and common migraine patients in Aceh province, Indonesia.

Material and methods:
A case-control study was conducted at Dr. Zainoel Abidin Hospital, Banda Aceh, Indonesia from 1 March to 30 August 2015. Gene variation analysis of exon 26 of the SCN1A gene was conducted in 33 patients with idiopathic epilepsy, 33 patients with common migraine and 30 controls using polymerase chain reaction and direct sequencing.

Results:
SCN1A gene variations were identified in two partial secondary generalized epilepsy patients. In 1 patient, four silent mutations at nucleotide positions A4440T (Leu1480Leu), T4443C (Leu1481Leu), A5046G (Leu1682Leu) and C5121T (Asn1707Asn) were identified. One silent mutation at position G5505A (Glu1835Glu) was found in another patient. No gene variation was identified among controls and common migraine patients.

Discussion:
This study is the first report on genetic variations of the SCN1A gene in adult patients with idiopathic epilepsy and common migraine in Indonesia. However, the association between these genetic variants and epilepsy needs to be clarified.

Conclusions:
Five genetic variations in exon 26 of SCN1A were identified in 2 patients with partial secondary generalized epilepsy in Aceh, Indonesia.

ACKNOWLEDGEMENTS
We would like to express our sincere appreciation to all subjects for their participation. This study was supported by the Indonesian Directorate of Research and Community Service, grant number 025/SP2H/LT/DRPM/II/2016. We would like to thank to all participants in this study.
CONFLICT OF INTEREST
None declared.
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