TY - JOUR
T1 - SCN1A gene variations in epilepsy and migraine patients in Aceh, Indonesia
AU - Lestari, Nova Dian
AU - Rahayuningsih, Endang Mutiawati
AU - Syahrul, Syahrul
AU - Emril, Dessy Rakhmawati
AU - Harapan, Harapan
AU - Sadewa, Ahmad Hamim
AU - Bachtiar, Adang
AU - Sjahrir, Hasan
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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. Ma t e r i a l and me thods: 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 and discussion: 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.
AB - 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. Ma t e r i a l and me thods: 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 and discussion: 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.
KW - Epilepsy
KW - Gene variation
KW - Migraine
KW - Mutation
KW - SCN1A
UR - http://www.scopus.com/inward/record.url?scp=85048778042&partnerID=8YFLogxK
U2 - 10.29089/2017.17.00001
DO - 10.29089/2017.17.00001
M3 - Article
AN - SCOPUS:85048778042
VL - 25
SP - 41
EP - 45
JO - Polish Annals of Medicine
JF - Polish Annals of Medicine
SN - 1230-8013
IS - 1
ER -