Article
Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.
Human genetics - 1 May 2014
Baum Larry, Haerian Batoul Sadat, Ng Ho-Keung, Wong Virginia C N, Ng Ping Wing, Lui Colin H T, Sin Ngai Chuen, Zhang Chunbo, Tomlinson Brian, Wong Gary Wing-Kin, Tan Hui Jan, Raymond Azman Ali, Mohamed Zahurin, Kwan Patrick
Abstract excerpt
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...
Topics
- Adolescent
- Adult
- Case-Control Studies
- Child
- Child, Preschool
- Epilepsy
- Female
- Humans
- Ion Channel Gating
- Male