An advance about the genetic causes of epilepsy

¹ The School of Molecular and Cellular Biology, University of Illinois at Urbana-Champaign, Urbana, IL 61801-3633, US
² High School Affiliated to Shanghai Jiao Tong University, Shanghai, 200441, China
³ Applied Biology program, University of British Columbia, Vancouver, V6r3b1, Canada
⁴ School of Chemical Machinery and Safety, Dalian University of Technology, Dalian, 116023, China

^a Corresponding author: yus9@Illinois.edu
^b Corresponding author: taoistrichard.l@outlook.com
^c Corresponding author: catherineliys@gmail.com
^d Corresponding author: dvastsea@mail.dlut.edu.cn
^† These authors contributed equally.

Abstract

Human hereditary epilepsy has been found related to ion channel mutations in voltage-gated channels (Na+, K+, Ca2+, Cl-), ligand gated channels (GABA receptors), and G-protein coupled receptors, such as Mass1. In addition, some transmembrane proteins or receptor genes, including PRRT2 and nAChR, and glucose transporter genes, such as GLUT1 and SLC2A1, are also about the onset of epilepsy. The discovery of these genetic defects has contributed greatly to our understanding of the pathology of epilepsy. This review focuses on introducing and summarizing epilepsy-associated genes and related findings in recent decades, pointing out related mutant genes that need to be further studied in the future.