Journal article

Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy

Larry Baum, Batoul Sadat Haerian, Ho-Keung Ng, Virginia CN Wong, Ping Wing Ng, Colin HT Lui, Ngai Chuen Sin, Chunbo Zhang, Brian Tomlinson, Gary Wing-Kin Wong, Hui Jan Tan, Azman Ali Raymond, Zahurin Mohamed, Patrick Kwan

HUMAN GENETICS | SPRINGER | Published : 2014

Abstract

High-frequency action potentials are mediated by voltage-gated sodium channels, composed of one large α subunit and two small β subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the brain. These play a key role in epilepsy, with the most commonly mutated gene in epilepsy being SCN1A. We examined whether polymorphisms in the above genes affect epilepsy risk in 1,529 epilepsy patients and 1,935 controls from four ethnicities or locations: Malay, Indian, and Chinese, all from Malaysia, and Chinese from Hong Kong. Of patients, 19 % were idiopathic, 42 % symptomatic, and 40 % cryptogenic. We genotyped 43 polymorphisms: 27 in Hong Kong, 28 in Malaysia, and 12 in both locat..

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Grants

Awarded by Hong Kong Research Grants Council Clinical Research Fellowship Grant (CERG)


Awarded by Malaysian Ministry of Higher Education High Impact Research Grant


Awarded by University of Malaya UMRG grant


Funding Acknowledgements

Support was provided by the Hong Kong Research Grants Council Clinical Research Fellowship Grant (CERG Project CUHK4466/06M), Malaysian Ministry of Higher Education High Impact Research Grant (E000025-20001), and University of Malaya UMRG grant RG520-13HTM. None of the authors has any conflict of interest to disclose. They confirm having read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. Larry Baum had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.